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An Aberrant Sequence in a Connexin46 Mutant Underlies Congenital Cataracts

An increasing number of diseases have been mapped to genes coding for ion channel proteins, including the gap junction proteins, connexins. Here, we report on the identification of an amino acid sequence underlying the behavior of a non-functional mutant connexin46 (CX46) associated with congenital...

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Bibliografiske detaljer
Main Authors: Minogue, Peter J., Liu, Xiaoqin, Ebihara, Lisa, Beyer, Eric C., Berthoud, Viviana M.
Format: Artigo
Sprog:Inglês
Udgivet: 2005
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2720622/
https://ncbi.nlm.nih.gov/pubmed/16204255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M504765200
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