A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family

Molecular Vision

Volumn 17, Issue , 2011, Pages 1070-1073

  Yang, Guoxing ^a   Xing, Baogang ^b   Liu, Guangcai ^b   Lu, Xiangqing ^b   Jia, Xingang ^b   Wang, Xiuli ^b   Yu, Hongyan ^b   Fu, Yanjiang ^b   Zhao, Jialiang ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b Daqing eye Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 46; DNA;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CHINESE; CLINICAL ARTICLE; CODON; CONGENITAL CATARACT; CONGENITAL NUCLEAR CATARACT; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; GAP JUNCTION PROTEIN ALPHA3 GENE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOSITY; HUMAN; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; PEDIGREE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; ASPARAGINE; ASPARTIC ACID; BASE SEQUENCE; CATARACT; CHROMOSOMES, HUMAN, PAIR 13; CONNEXINS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GENOTYPE; HAPLOTYPES; HUMANS; LENS, CRYSTALLINE; LOD SCORE; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

EID: 79955639118     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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