A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family

Molecular Vision

Volumn 18, Issue , 2012, Pages 2114-2118

  Zhang, Lu ^a   Qu, Xin ^a   Su, Sheng ^a   Guan, Linan ^a   Liu, Ping ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CONNEXIN 46; GENOMIC DNA; GLYCINE;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CHINA; CHINESE; CHROMOSOME 13Q; CONGENITAL CATARACT; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; EXON; FEMALE; GAP JUNCTION PROTEIN ALPHA 3 GENE; GENE LINKAGE DISEQUILIBRIUM; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC MARKER; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MUTATOR GENE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CATARACT; CHILD; CHROMOSOMES, HUMAN, PAIR 13; CONNEXINS; EXONS; FAMILY; FEMALE; GENETIC LINKAGE; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84865828331     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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