A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families

Molecular Vision

Volumn 17, Issue , 2011, Pages 1085-1089

  Yang, Guoxing ^a   Xiong, Chunlei ^b   Li, Shanlan ^b   Wang, Yuanyuan ^b   Zhao, Jialiang ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b Hai Cheng Rehabilitation Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN; DNA; GAMMA CRYSTALLIN; GAMMAC CRYSTALLIN; GAMMAD CRYSTALLIN; GAMMAS CRYSTALLIN; GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN ALPHA3; GAP JUNCTION PROTEIN ALPHA8; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CHINESE; CLINICAL ARTICLE; CONGENITAL CATARACT; CONGENITAL CORALLIFORM CATARACT; DNA EXTRACTION; DNA SEQUENCE; FEMALE; GAMMAD CRYSTALLIN GENE; GENE; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; LENS; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PHYSICAL EXAMINATION; POINT MUTATION; PRIORITY JOURNAL; VIRULENCE;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CHROMOSOMES, HUMAN, PAIR 2; DNA MUTATIONAL ANALYSIS; GAMMA-CRYSTALLINS; GENES, DOMINANT; GENETIC LINKAGE; HAPLOTYPES; HUMANS; LENS, CRYSTALLINE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

EID: 79955611091     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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