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An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract

Autosomal dominant congenital cataracts have been associated with mutations of genes encoding several soluble and membrane proteins. By candidate gene screening, we identified a novel mutation in MIP (c.494 G>A) that segregates with a congenital lamellar cataract within a South Indian family and...

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書誌詳細
主要な著者: Kumar, G. Senthil, Kyle, John W., Minogue, Peter J., Kumar, K. Dinesh, Vasantha, K., Berthoud, Viviana M., Beyer, Eric C., Sathiyavedu, Santhiya T.
フォーマット: Artigo
言語:Inglês
出版事項: 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3570674/
https://ncbi.nlm.nih.gov/pubmed/23116563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2012.10.010
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