Autosomal dominant coralliform cataract related to a missense mutation of the γD-crystallin gene

Chinese Medical Journal

Volumn 117, Issue 5, 2004, Pages 727-732

  Xu, Wei Zhen ^a   Zheng, Shu ^a   Xu, S J ^b   Huang, Wei ^b   Yao, Ke ^a   Zhang, Su Zhan ^a  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

Author keywords

D crystallin gene; Autosomal dominant inheritance; Cataract; Gene scan; Molecular modeling; Mutation analysis; Ultrastructure

Indexed keywords

GAMMA CRYSTALLIN; GENOMIC DNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL ULTRASTRUCTURE; CHINESE; CLINICAL ARTICLE; COMPUTER PROGRAM; CONGENITAL CATARACT; CONTROLLED STUDY; ELECTRON MICROSCOPY; EXON; EYE PHOTOGRAPHY; FAMILY; GENE CLUSTER; GENETIC IDENTIFICATION; GENOME ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; LENS FIBER; LENSECTOMY; LINKAGE ANALYSIS; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; PHENOTYPE; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; SLIT LAMP; VISUAL SYSTEM EXAMINATION;

CATARACT; FEMALE; GAMMA-CRYSTALLINS; GENES, DOMINANT; HUMANS; LENS, CRYSTALLINE; LINKAGE (GENETICS); MALE; MICROSCOPY, ELECTRON; MUTATION, MISSENSE;

EID: 2942534416     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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