Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin

Human Genetics

Volumn 105, Issue 1-2, 1999, Pages 168-170

  Berry, Vanita ^a   Mackay, Donna ^a   Khaliq, Shagufta ^c   Francis, Peter J ^a   Hameed, Abdul ^c   Anwar, Khalid ^c   Mehdi, S Qasim ^c   Newbold, Richard J ^a   Ionides, Alex ^a,b   Shiels, Alan ^d   Moore, Tony ^a,b   Bhattacharya, Shomi S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c Biochem and Genetic Eng Division   (Pakistan)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN;

ARTICLE; CHROMOSOME 1; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; FAMILY STUDY; GENE MUTATION; GENETIC LINKAGE; HUMAN; PAKISTAN; PRIORITY JOURNAL;

EID: 0032780886     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900094     Document Type: Article

References (6)

1. Francis PJ, Berry V, Moore AT, Bhattacharya S (1999) Lens biology: development and human cataractogenesis. Trends Genet 15:191-196
2. Kumar NM, Gilula NB (1997) The gap junction communication channel. Cell 84:381-388
3. Mackay D, Ionides Akibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S (1999) Connexin 46 mutation in autosomal dominant congenital cataract. Am J Hum Genet 64:1357-1364
4. Rubin JB, Verselis V, Bennett MVL, Bargiello TA. (1992) A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32 Proc Natl Acad Sci USA 89:3820-3824
5. Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S (1998) A missense mutation in the human connexin50 gene (gja8) underlies autosomal dominant zonular pulverulent cataract, on chromosome 1q. Am J Hum Genet 62:526-532
6. Yeager M, Nicholson BJ (1996) Structure of gap junction intracellular channels. Curr Opin Struct Biol 6:183-192