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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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Hlavní autoři: Shiels, A, Mackay, D, Ionides, A, Berry, V, Moore, A, Bhattacharya, S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376956/
https://ncbi.nlm.nih.gov/pubmed/9497259
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