Connexin46 mutations in autosomal dominant congenital cataract.

Loci for autosomal dominant "zonular pulverulent" cataract have been mapped to chromosomes 1q (CZP1) and 13q (CZP3). Here we report genetic refinement of the CZP3 locus and identify underlying mutations in the gene for gap-junction protein alpha-3 (GJA3), or connexin46 (Cx46). Linkage anal...

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Bibliographic Details
Main Authors: Mackay, D, Ionides, A, Kibar, Z, Rouleau, G, Berry, V, Moore, A, Shiels, A, Bhattacharya, S
Format: Artigo
Language:Inglês
Published: 1999
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377871/
https://ncbi.nlm.nih.gov/pubmed/10205266
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