Učitavanje...

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

CZP1, a locus for autosomal dominant "zonular pulverulent" cataract, previously had been linked with the Duffy blood-group-antigen locus on chromosome 1q. Here we report genetic refinement of the CZP1 locus and show that the underlying mutation is present in GJA8, the gene for connexin50....

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Bibliografski detalji
Glavni autori: Shiels, A, Mackay, D, Ionides, A, Berry, V, Moore, A, Bhattacharya, S
Format: Artigo
Jezik:Inglês
Izdano: 1998
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376956/
https://ncbi.nlm.nih.gov/pubmed/9497259
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