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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...

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Detalhes bibliográficos
Main Authors: Masyukova, Svetlana V., Winkelbauer, Marlene E., Williams, Corey L., Pieczynski, Jay N., Yoder, Bradley K.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2011
Assuntos:
Acesso em linha: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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