A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract

Molecular Vision

Volumn 18, Issue , 2012, Pages 968-973

  Wang, Kai Jie ^a   Zhu, Si Quan ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 46; ISOLEUCINE; PHENYLALANINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CLINICAL ARTICLE; CLINICAL STUDY; CODON; CONGENITAL CATARACT; DISEASE ASSOCIATION; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CATARACT; CHILD; CONNEXINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY;

EID: 84860852787     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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