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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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Bibliografiska uppgifter
Huvudupphovsmän: Minogue, Peter J., Liu, Xiaoqin, Ebihara, Lisa, Beyer, Eric C., Berthoud, Viviana M.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2005
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Länkar: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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