全血DNA小量试剂盒（浙杭械备20170002号）

COA文档说明书下载

15分钟内从400μl抗凝全血中快速分离纯化最多达20μg的总DNA

· 15分钟内即可完成血液总DNA的制备

· 无须事先分离去除红细胞及蛋白酶K消化步骤，可室温运输储存

· 彻底清除血样中的PCR抑制物，可使用多至1/2反应体系体积的模板进行扩增

产品介绍操作视频常见问题论文引用应用案例在线咨询

A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations
Zhu Y, Shentu X, Wang W, et al. Molecular vision, 2010, 16: 2347. 影响因子：1.986
四川地区猕猴线粒体DNA控制区遗传多样性及其种群遗传结构
徐怀亮，李地艳，程安春，姚永芳，倪庆永，曾文… - 兽类学报, 2010 - mammal.cn
ABCB1基因多态性与母胎界面糖皮质激素的转运关系
李健，王自能 - 暨南大学学报(自然科学与医学版), 2011 - jnxb.jnu.edu.cn
The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype
Y Zhu, X Shentu, W Wang - Molecular vision, 2011 - ncbi.nlm.nih.gov
A novel p. R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family
XC Shentu, SJ Zhao,L Zhang… - International journal of …, 2013 - ncbi.nlm.nih.gov
Novel mutation c. 980_983delATTA compound with c. 986C> A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus
F Song,B Chen, Z Sun, L Wu, S Zhao, Q Miao… - Journal of Zhejiang …, 2013 - Springer
Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI
SJ Zhao,YN Zhu, XC Shentu,Q Miao- International journal of …, 2013 - ncbi.nlm.nih.gov
Characterization of the Relationship between APOBEC3B Deletion and ACE Alu Insertion
K Wang, Y Li, C Dai, K Wang,J Yu, Y Tan, W Zhang… - 2013 - dx.plos.org
A functional fetal HSD11B2 [CA] n microsatellite polymorphism is associated with maternal serum cortisol concentrations in pregnant women
J Li,YP Chen,ZN Wang,TB Liu,D Chen… - Kidney and Blood …, 2013 - karger.com
A missense mutation in the arginine‐vasopressin neurophysin‐II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family
D Ye, FQ Dong, WQ Lu, Z Zhang,XL Lu… - Clinical …, 2013 - Wiley Online Library
Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation
X Wu, J Pan, Y Guo, C Guo, W Jiang,R Li… - Journal of Pediatric …, 2014 - degruyter.com
A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family
Y Yu, Y Yu, P Chen, J Li,Y Zhu, Y Zhai… - BMC medical …, 2014 - biomedcentral.com
Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy
H Yin, C Jin, X Fang, Q Miao, Y Zhao, Z Chen, Z Su… - PloS one, 2014 - dx.plos.org
Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome
H Yin, X Fang, C Jin, J Yin, J Li, S Zhao, Q Miao… - Journal of Zhejiang …, 2014 - Springer
CFI-rs7356506 is a genetic protective factor for acute anterior uveitis in Chinese patients
Y Wang,XF Huang, MM Yang,WJ Cai… - British Journal of …, 2014 - bjo.bmj.com
Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family
X Shentu, Q Miao, X Tang, H Yin, Y Zhao - 2015 - dx.plos.org
Association of CD40-1C/T Polymorphism in the 5′-Untranslated Region with Chronic HBV Infection
C Zhou, X Jin, J Tang, J Fei, C Gu… - Cellular Physiology and …, 2015 - karger.com
A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree
Y Yu, P Qiu, Y Zhu, J Li, M Wu, B Zhang… - BMC …, 2015 - biomedcentral.com
CFI-rs7356506 polymorphisms associated with Vogt-Koyanagi-Harada syndrome
ML Dai,XF Huang,QF Wang, WJ Cai,ZB Jin… - Molecular …, 2016 - ncbi.nlm.nih.gov
Association of polymorphisms of IRF6 to non-syndromic cleft lip with or without palate in a Guangdong population
W Wu, J Hao, H Wang, L Hua, F Li, Y Chen… - … JOURNAL OF CLINICAL …, 2016 - ijcem.com
SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with …
HS Zeng, WX Lin, ST Zhao… - Molecular …, 2016 - spandidos-publications.com
Molecular Epidemiological Survey of Glucose-6-Phosphate Dehydrogenase Deficiency and Thalassemia in Uygur and Kazak Ethnic Groups in Xinjiang, Northwest …
L Han, H Su,H Wu, W Jiang, S Chen - Hemoglobin, 2016 - Taylor & Francis
CFHR2‐rs2986127 as a genetic protective marker for acute anterior uveitis in Chinese patients
XF Huang,Y Wang, FF Li, D Lin, ML Dai… - The journal of gene …, 2016 - Wiley Online Library
Association of CD59 and CFH polymorphisms with acute anterior uveitis in Chinese population
QF Wang,XF Huang, ZL Zheng, ML Dai, WJ Cai… - Eye, 2016 - nature.com
A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family
MH Wu, YH Yu, QL Hao, XH Gong… - International Journal of …, 2017 - ncbi.nlm.nih.gov
Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease Genome-Wide Detection of CNVs in Unsolved IRDs
XF Huang, JY Mao, ZQ Huang, FQ Rao… - … & Visual Science, 2017 - iovs.arvojournals.org
Citrin缺陷导致的新生儿肝内胆汁淤积症患儿SLC25A13基因突变与生化指标的相关性研究
卢春婷，李佳萦，冯烈，宋元宗，张占会，卢筱华… - 2014 - cnki.com.cn
A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family
MH Wu, YH Yu, QL Hao, XH Gong…- International journal of…, 2017 - ncbi.nlm.nih.gov
Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population
X Yu, B Chen, X Zhang, X Shentu- Molecular vision, 2017 - ncbi.nlm.nih.gov
Identification of a novel Hemoplasma species from pigs in Zhejiang province, China
Y Fu, T Shi, L Xu, W Wei, F Lu, X Zhang…- Journal of Veterinary…, 2017 - jstage.jst.go.jp
Genome-wide detection of copy number variations in unsolved inherited retinal disease
XF Huang, JY Mao, ZQ Huang, FQ Rao…- …& visual science, 2017 - iovs.arvojournals.or
Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients
CY Feng, XQ Huang, XW Cheng, RH Wu, F Lu…- Scientific Reports, 2017 - nature.com
Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency…
CT Lu, J Yang, SM Huang, L Feng, ZJ Li- Medicine, 2017 - ncbi.nlm.nih.gov
Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients
CT Lu, QP Shi, ZJ Li, J Li…- Experimental Biology and…, 2017 - journals.sagepub.com
Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 genes account for 38.7% of Chinese patients with familial exudative vitreoretinopathy
FQ Rao, XB Cai, FF Cheng, W Cheng…- …& visual science, 2017 - jov.arvojournals.org
Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with…
JW Qiu, M Deng, Y Cheng, RM Atif, WX Lin, L Guo…- Oncotarget, 2017 - ncbi.nlm.nih.gov
Repetitive Element DNA Methylation is Associated with Menopausal Age
S Lu, Z Niu, Y Chen, Q Tu, Y Zhang, W Chen…- Aging and…,2018- ncbi.nlm.nih.gov
Lower Circulating miR-122 Level in Patients with HNF1A Variant-Induced Diabetes Compared with Type 2 Diabetes
X Huang, S Gong, Y Ma, X Cai, L Zhou, Y Luo…- Journal of diabetes…,2018- hindawi.com
hsa-miR-155 targeted NCSTN 3'UTR mutation promotes the pathogenesis and development of acne inversa
YJ Xiao, Y Yang, YH Liang- Int J Clin Exp Pathol,2018- ijcep.com
Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China
W Zhuang, S Wang, J Hao, M Xu, H Chi, S Piao, J Ma…- PloS one,2018- journals.plos.or
Association between BMP4 gene polymorphisms and cleft lip with or without cleft palate in a population from South China
J Hao, R Gao, W Wu, L Hua, Y Chen, F Li, J Liu…- Archives of oral…,2018- Elsevier
The impact of GJA8 SNPs on susceptibility to age-related cataract
X Yu, X Ping, X Zhang, Y Cui, H Yang, X Tang, Y Tang…- Human genetics,2018- Springer
Association of Genes implicated in primary angle-closure Glaucoma and the ocular biometric parameters of anterior chamber depth and axial length in a northern Chinese population
S Wang, W Zhuang, J Ma, M Xu…- BMC…,2018- bmcophthalmol.biomedcentral.com
Fetal But Not Maternal Angiotensin Converting Enzyme (ACE)-2 Gene Rs2074192 Polymorphism is Associated with Increased Risk of Being a Small For Gestational
J He, YP Lu, J Li, TY Li, X Chen, XJ Liang…- Kidney and Blood…,2018- karger.com
Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus
F Liu, Y Yang, Y Zheng…- Molecular medicine…,2018- spandidos-publications.com
The Influence of B and T Lymphocyte Attenuator Genetic Variants on Susceptibility to Chronic Hepatitis B Virus Infection
J Tang, J Fei, C Gu, W Liu, M Li, C Zhou- Cellular Physiology and…,2018- karger.com
1 例进行性家族性肝内胆汁淤积症2 型婴儿的临床和遗传学分析
林桂枝，邱建武，程映，林伟霞，宋元宗- 中国当代儿科杂志,?2018?- zgddek.com
A recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma
QG Zhang, YH Liang- Indian Journal of Dermatology, Venereology, and…, 2015 - ijdvl.com
介入放射诊疗工作人员机体DNA 甲基化状态与职业暴露的关系
章群，闫鹏，肖国兵，李小平，王爱红，王永 - 2018 - jeom.org
首例非白人婴儿肝衰竭综合征1 型患儿临床特点和分子诊断研究
林伟霞，郑琪琪，郭丽，程映，宋元宗- 中国当代儿科杂志, 2017 - zgddek.com
关节挛缩, 肾功能不全和胆汁淤积综合征一家系临床特点及VPS33B 基因突变分析
黄大桂，刘佳佳，郭丽，宋元宗- 中国当代儿科杂志, 2017 - zgddek.com
Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50
Y Ye, M Wu, Y Qiao, T Xie, Y Yu, K Yao Ophthalmic Genetics,2019 Taylor & Francis
The relationship among occupational irradiation, DNA methylation status, and oxidative damage in interventional physicians
B Chen, Q Dai, Q Zhang, P Yan, A Wang, L Qu, Y Jin… Medicine,2019 ncbi.nlm.nih.gov
The impact of GJA3 SNPs on susceptibility to age-related cataract
XJ Tang, XC Shentu, YL Tang, XY Ping… International Journal of…2019 ncbi.nlm.nih.gov
Evaluating correlation between the ocular biometry and genetic variants of MYOC and ABCA1 with primary angle-closure glaucoma in a cohort from northern
SL Wang, SY Piao, MY Xu, W Zhang…International journal…2019 ncbi.nlm.nih.gov
白羽王鸽促卵泡素受体基因多态性与产蛋量关联分析
毛月姣，李国勤，陈晓燕，李高楼…Journal of…2019 journal05.magtech.org.cn
Three novel variants identified within ECM-related genes in Chinese Han keratoconus patients
X Xiayan, X Zhang, C Yilei, H Yang… - Scientific Reports …, 2020 - search.proquest.com
Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China
W Zhuang, S Wang, J Hao, M Xu, H Chi, S Piao, J Ma… - PloS one, 2018 - journals.plos.org
The COL27A1 Gene Polymorphism in Children with Tic Disorder in Southern China and Its Clinical Association
HS Lin, BX Li, WX Chen, ZH Zhang, GS Liu, JJ Wen… 2020 researchsquare.com … TD patients' and Control children's whole blood samples were collected and stored at -20℃ until analysis. Genomic DNA was prepared from peripheral blood by using the whole blood genomic DNA mini kit (SIMGEN, Hangzhou, China)…
A novel TSC1 frameshift mutation c. 1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense‐mediated mRNA degradation (NMD)
C Qiu, C Li, X Tong, L Dai, W Liu, Y Xie…Genetics & Genomic…2020 Wiley Online Library … Email: taoli.sunny@whu.edu.cn. Search for more papers by this author. First published: 31 July 2020 https://doi.org… Blood DNA Mini kit (purchased from Simgen Biotechnology, Hangzhou, China) was used for extracting genomic genes from peripheral blood samples…
Three novel variants identified within ECM-related genes in Chinese Han keratoconus patients
X Xiayan, X Zhang, C Yilei, H Yang… Scientific Reports…,2020 search.proquest.com … 5 Scientific RepoRtS | (2020) 10:5844 | https://doi.org/10.1038/s41598-020-62572-0… Dickinson, Franklin Lakes, NJ, USA) containing ethylene diamine tetraacetic acid (EDTA) and genomic DNA was isolated using the Simgen Blood DNA mini kit (Simgen, Hangzhou, China…
βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek key motif
J Xu, H Wang, A Wang, J Xu, C Fu, Z Jia, K Yao…et Biophysica Acta (BBA…,2020 Elsevier …2020 Published by Elsevier. Page 2. 1 1… Molecular genetic analysis Genomic DNA was extracted from venous blood according to the manufacturer's instructions (Simgen, Hangzhou, China)…
Novel mutations identified in the Chinese Han population with keratoconus by next-generation sequencing
B Chen, X Yu, X Zhang, H Yang, Y Cui, X Shentu -2020- researchsquare.com …
βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif
J Xu, H Wang, A Wang, J Xu, C Fu, Z Jia, K Yao…- …et Biophysica Acta (BBA…,2021- Elsevier
Clinical characterization of NTCP deficiency in paediatric patients : A case‐control study based on?SLC10A1?genotyping analysis
LJ Deng, WX Ouyang, R Liu, M Deng, JW Qiu…?- Liver?…,?2021?- Wiley Online Library
Mutational screening of AGRN, SLC39A5, SCO2, P4HA2, BSG, ZNF644, and CPSF1 in a Chinese cohort of 103 patients with nonsyndromic high myopia
YH Zheng, XB Cai, LQ Xia, FY Zhou, XR Wen…?- Molecular?…,?2021?- ncbi.nlm.nih.gov
Mitochondrial tRNA mutation and regulation of the adiponectin pathway in maternally inherited hypertension in chinese han
J Bai, Q Ma, Y Lan, Y Chen, S Ma, J Li, C Liu…?- Frontiers in Cell and?…,?2021?- frontiersin.org
Novel mutations identified in the Chinese Han population with keratoconus by next-generation sequencing
B Chen, X Yu, X Zhang, H Yang, Y Cui…?- Journal of?…,?2022?- hindawi.com
Atheroprotective mechanism by which folic acid regulates monocyte subsets and function through DNA methylation
Y Xiang, B Liang, X Zhang, X Qiu…?- Clinical?…,?2022?- clinicalepigeneticsjournal?…
Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
ZB Lin,?J Li, L Ye, HS Sun, A Yu, SH Chen, FF Li?- BMC ophthalmology,?2022?- Springer
Znf469 Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome
Bao J, Yu X, Ping X, et al. Znf469 Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome[J]. Investigative Ophthalmology & Visual Science, 2023, 64(5): 29-29.
Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications
Su Y, Zhang J, Gao J, et al. Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications[J]. BMC Medical Genomics, 2024, 17(1): 36.
[HTML]?The impact of GJA3 SNPs on susceptibility to age-related cataract
Tang X J, Shentu X C, Tang Y L, et al. The impact of GJA3 SNPs on susceptibility to age-related cataract[J]. International Journal of Ophthalmology, 2019, 12(6): 1008.
[HTML]?A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family
Lin Z B, Feng C Y, Li J, et al. A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family[J]. International Journal of Ophthalmology, 2024, 17(3): 466.

全血DNA小量试剂盒（浙杭械备20170002号）

A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations

四川地区猕猴线粒体DNA控制区遗传多样性及其种群遗传结构

ABCB1基因多态性与母胎界面糖皮质激素的转运关系

The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype

A novel p. R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family

Novel mutation c. 980_983delATTA compound with c. 986C> A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI

Characterization of the Relationship between APOBEC3B Deletion and ACE Alu Insertion

A functional fetal HSD11B2 [CA] n microsatellite polymorphism is associated with maternal serum cortisol concentrations in pregnant women

A missense mutation in the arginine‐vasopressin neurophysin‐II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family

Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation

A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family

Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome

CFI-rs7356506 is a genetic protective factor for acute anterior uveitis in Chinese patients

Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family

Association of CD40-1C/T Polymorphism in the 5′-Untranslated Region with Chronic HBV Infection

A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree

CFI-rs7356506 polymorphisms associated with Vogt-Koyanagi-Harada syndrome

Association of polymorphisms of IRF6 to non-syndromic cleft lip with or without palate in a Guangdong population

SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with …

Molecular Epidemiological Survey of Glucose-6-Phosphate Dehydrogenase Deficiency and Thalassemia in Uygur and Kazak Ethnic Groups in Xinjiang, Northwest …

CFHR2‐rs2986127 as a genetic protective marker for acute anterior uveitis in Chinese patients

Association of CD59 and CFH polymorphisms with acute anterior uveitis in Chinese population

A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family

Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease Genome-Wide Detection of CNVs in Unsolved IRDs

Citrin缺陷导致的新生儿肝内胆汁淤积症患儿SLC25A13基因突变与生化指标的相关性研究

A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family

Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population

Identification of a novel Hemoplasma species from pigs in Zhejiang province, China

Genome-wide detection of copy number variations in unsolved inherited retinal disease

Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients

Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency…

Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients

Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 genes account for 38.7% of Chinese patients with familial exudative vitreoretinopathy

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with…

Repetitive Element DNA Methylation is Associated with Menopausal Age

Lower Circulating miR-122 Level in Patients with HNF1A Variant-Induced Diabetes Compared with Type 2 Diabetes

hsa-miR-155 targeted NCSTN 3'UTR mutation promotes the pathogenesis and development of acne inversa

Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China

Association between BMP4 gene polymorphisms and cleft lip with or without cleft palate in a population from South China

The impact of GJA8 SNPs on susceptibility to age-related cataract

Association of Genes implicated in primary angle-closure Glaucoma and the ocular biometric parameters of anterior chamber depth and axial length in a northern Chinese population

Fetal But Not Maternal Angiotensin Converting Enzyme (ACE)-2 Gene Rs2074192 Polymorphism is Associated with Increased Risk of Being a Small For Gestational

Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus

The Influence of B and T Lymphocyte Attenuator Genetic Variants on Susceptibility to Chronic Hepatitis B Virus Infection

1 例进行性家族性肝内胆汁淤积症2 型婴儿的临床和遗传学分析

A recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma

介入放射诊疗工作人员机体DNA 甲基化状态与职业暴露的关系

首例非白人婴儿肝衰竭综合征1 型患儿临床特点和分子诊断研究

关节挛缩, 肾功能不全和胆汁淤积综合征一家系临床特点及VPS33B 基因突变分析

Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50

The relationship among occupational irradiation, DNA methylation status, and oxidative damage in interventional physicians

The impact of GJA3 SNPs on susceptibility to age-related cataract

Evaluating correlation between the ocular biometry and genetic variants of MYOC and ABCA1 with primary angle-closure glaucoma in a cohort from northern

白羽王鸽促卵泡素受体基因多态性与产蛋量关联分析

Three novel variants identified within ECM-related genes in Chinese Han keratoconus patients

Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China

The COL27A1 Gene Polymorphism in Children with Tic Disorder in Southern China and Its Clinical Association

A novel TSC1 frameshift mutation c. 1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense‐mediated mRNA degradation (NMD)

Three novel variants identified within ECM-related genes in Chinese Han keratoconus patients

βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek key motif

Novel mutations identified in the Chinese Han population with keratoconus by next-generation sequencing

βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif

Clinical characterization of NTCP deficiency in paediatric patients : A case‐control study based on?SLC10A1?genotyping analysis

Mutational screening of AGRN, SLC39A5, SCO2, P4HA2, BSG, ZNF644, and CPSF1 in a Chinese cohort of 103 patients with nonsyndromic high myopia

Mitochondrial tRNA mutation and regulation of the adiponectin pathway in maternally inherited hypertension in chinese han

Novel mutations identified in the Chinese Han population with keratoconus by next-generation sequencing

Atheroprotective mechanism by which folic acid regulates monocyte subsets and function through DNA methylation

Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome

Znf469 Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome

Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications

[HTML]?The impact of GJA3 SNPs on susceptibility to age-related cataract

[HTML]?A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family