A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family

Molecular Vision

Volumn 14, Issue , 2008, Pages 1272-1276

  Yao, Ke ^a   Jin, Chongfei ^a   Zhu, Ning ^a   Wang, Wei ^a   Wu, Renyi ^a   Jiang, Jin ^a   Shentu, Xingchao ^a  

^a ZHEJIANG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYSTEINE; CYTOSINE; GAMMA CRYSTALLIN; GENOMIC DNA;

AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; CHINESE; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; DNA EXTRACTION; DNA FLANKING REGION; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOSITY; HUMAN; INFANT; INTRON; MALE; MUTANT; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLIT LAMP; STOP CODON; WILD TYPE;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CHINA; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GAMMA-CRYSTALLINS; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; PEDIGREE; PROTEIN BIOSYNTHESIS; PROTEIN STRUCTURE, SECONDARY;

EID: 48949116525     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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