A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q

American Journal of Human Genetics

Volumn 62, Issue 3, 1998, Pages 526-532

  Shiels, Alan ^a,c   Mackay, Donna ^a   Ionides, Alexander ^a,b   Berry, Vanita ^a   Moore, Anthony ^b   Bhattacharya, Shomi ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 50; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 1Q; CLINICAL ARTICLE; CONGENITAL CATARACT; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0031959735     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301762     Document Type: Article

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