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Attenuated Renal Disease Severity Associated with a Missense PKD1 Mutation

Mutations of PKD1 and PKD2 account for most cases of autosomal dominant polycystic kidney disease (ADPKD). Compared to PKD2, patients with PKD1 typically have more severe renal disease. Here, we report a follow-up study of a unique multi-generation family with bilineal ADPKD (NFL10) in which a PKD1...

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Detalhes bibliográficos
Main Authors: Pei, York, Lan, Zheng, Wang, Kairong, Garcia-Gonzalez, Miguel, He, Ning, Dicks, Elizabeth, Parfrey, Patrick, Germino, Gregory, Watnick, Terry
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4105019/
https://ncbi.nlm.nih.gov/pubmed/22031115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ki.2011.370
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