A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family

Human Mutation

Volumn 32, Issue 1, 2011, Pages

  Wang, Binbin ^a,b,e,f   Yu, Changhong ^a   Xi, Yi Bo ^c,d   Cai, Hong Chen ^c   Wang, Jing ^b,e   Zhou, Sirui ^b,e   Zhou, Shiyi ^b,e   Wu, Yi ^d   Yan, Yong Bin ^c   Ma, Xu ^b,e,f   Xie, Lixin ^a  

^a SHANDONG EYE INSTITUTE   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c TSINGHUA UNIVERSITY   (China)

^d LANZHOU UNIVERSITY   (China)

^e GRADUATE SCHOOL OF PEKING UNION MEDICAL COLLEGE   (China)

^f WORLD HEALTH ORGANIZATION   (Switzerland)

Author keywords

ADCC); Autosomal dominant congenital cataract; CRYGD; Structure

Indexed keywords

ARGININE; TRYPTOPHAN;

ARTICLE; AUTOSOMAL DOMINANT CONGENITAL CATARACT; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHINESE; CODON; CONGENITAL CATARACT; CONTROLLED STUDY; GAMMA D CRYSTALLIN GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; HAPLOTYPE; HUMAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; FEMALE; GAMMA-CRYSTALLINS; HAPLOTYPES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN CONFORMATION; PROTEIN STABILITY;

EID: 78650445263     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21386     Document Type: Article

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