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Loss of function and impaired degradation of a cataract-associated mutant connexin50

A mutant human connexin50 (hCx50), hCx50P88S, has been linked to cataracts inherited as an autosomal dominant trait. The functional, biochemical and cellular behavior of wild-type and mutant hCx50 were examined in transfected cells. hCx50P88S was unable to induce gap junctional currents by itself, a...

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Библиографические подробности
Главные авторы: Berthoud, Viviana M., Minogue, Peter J., Guo, Jun, Williamson, Edward K., Xu, Xiaorong, Ebihara, Lisa, Beyer, Eric C.
Формат: Artigo
Язык:Inglês
Опубликовано: 2003
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2763359/
https://ncbi.nlm.nih.gov/pubmed/12800976
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