A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree

Molecular Vision

Volumn 18, Issue , 2012, Pages 1874-1880

  Guo, Yuanyuan ^a   Su, Dongmei ^b,c   Li, Qian ^b,c   Yang, Zhenfei ^a   Ma, Zicheng ^a   Ma, Xu ^b,c,d   Zhu, Siquan ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c PEKING UNION MEDICAL COLLEGE   (China)

^d WORLD HEALTH ORGANIZATION   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA C CRYSTALLIN; GAMMA CRYSTALLIN; GENOMIC DNA; TRYPTOPHAN; UNCLASSIFIED DRUG;

ARTICLE; BIOINFORMATICS; CHINESE; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; CORNEA DISEASE; DNA SEQUENCE; EXON; FEMALE; GAMMA C CRYSTALLIN GENE; GENE; GENE CLUSTER; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC SCREENING; HUMAN; MALE; MICROCORNEA; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHASE TRANSITION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN SECONDARY STRUCTURE; SEQUENCE ANALYSIS; STOP CODON; STRUCTURE ANALYSIS;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CATARACT; CHILD; CODON, NONSENSE; CORNEAL DISEASES; EXONS; FEMALE; GAMMA-CRYSTALLINS; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFANT; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; SEQUENCE ANALYSIS, DNA;

EID: 84865825985     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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