A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a chinese family

Current Eye Research

Volumn 35, Issue 7, 2010, Pages 597-604

  Gao, Xiaobo ^a,b   Cheng, Jie ^c   Lu, Cailing ^a,b   Li, Xiaoqiao ^a,b   Li, Feifeng ^a,b   Liu, Chunmei ^a,b   Zhang, Meng ^a,b   Zhu, Siquan ^c   Ma, Xu ^a,b  

^a NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^b WHO Collaborative Center for Research in Human Reproduction   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Congenital cataract; Connexin; Gja8; Linkage analysis; Mutation

Indexed keywords

CONNEXIN 50; GAP JUNCTION PROTEIN; PHENYLALANINE; SERINE; UNCLASSIFIED DRUG; EYE PROTEIN; MICROSATELLITE DNA;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOINFORMATICS; CARBOXY TERMINAL SEQUENCE; CHINESE; CLINICAL EXAMINATION; CODON; CONGENITAL CATARACT; CONTROLLED STUDY; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RECOMBINATION; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; HYDROPHOBICITY; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; DOMINANT GENE; GENETIC LINKAGE; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; LENS NUCLEUS; PATHOLOGY; PEDIGREE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CONNEXINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GENOTYPE; HUMANS; LENS NUCLEUS, CRYSTALLINE; LOD SCORE; MALE; MICROSATELLITE REPEATS; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 77954418511     PISSN: 02713683     EISSN: 14602202     Source Type: Journal    
DOI: 10.3109/02713681003725831     Document Type: Article

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