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Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans

A spectrum of complex oligogenic disorders called the ciliopathies have been connected to dysfunction of cilia. Among the ciliopathies are Nephronophthisis (NPHP), characterized by cystic kidney disease and retinal degeneration, and Meckel–Gruber syndrome (MKS), a gestational lethal condition with s...

詳細記述

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書誌詳細
主要な著者: Masyukova, Svetlana V., Winkelbauer, Marlene E., Williams, Corey L., Pieczynski, Jay N., Yoder, Bradley K.
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3131040/
https://ncbi.nlm.nih.gov/pubmed/21546380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr198
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