A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a chinese family

Human Mutation

Volumn 32, Issue 12, 2011, Pages 1367-1370

  Yao, Ke ^a   Wang, Wei ^a   Zhu, Yanan ^a   Jin, Chongfei ^a   Shentu, Xingchao ^a   Jiang, Jin ^b   Zhang, Yidong ^a   Ni, Shuang ^a  

^a THE SECOND AFFILIATED HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b ZHEJIANG PROVINCIAL PEOPLE'S HOSPITAL   (China)

Author keywords

Apoptosis; Congenital cataract; Connexin46; GJA3

Indexed keywords

ASPARTIC ACID; CONNEXIN 46; GAP JUNCTION PROTEIN; GLYCINE;

APOPTOSIS; ARTICLE; CHILD; CONGENITAL CATARACT; GENE MUTATION; HELA CELL; HUMAN; NUCLEAR PULVERULENT; POSTERIOR POLAR CATARACT; PRIORITY JOURNAL;

APOPTOSIS; ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CONNEXINS; FAMILY; FEMALE; GENES, DOMINANT; HELA CELLS; HUMANS; MALE; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 80053016580     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21552     Document Type: Article

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