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Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract

The aquaporin (AQP) transmembrane proteins facilitate the movement of water across the plasma membrane. In the lens, AQP0 is expressed in fiber cells and AQP1 in the epithelium. Recently, two individuals were identified with congenital polymorphic autosomal dominant cataracts, due to a single nucleo...

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Библиографические подробности
Главные авторы: Varadaraj, K., Kumari, S.S., Patil, R., Wax, M.B., Mathias, R.T.
Формат: Artigo
Язык:Inglês
Опубликовано: 2008
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2504491/
https://ncbi.nlm.nih.gov/pubmed/18501347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2008.04.001
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