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A mutation affecting polycystin-1 mediated heterotrimeric G-protein signaling causes PKD

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to form a calcium-permeab...

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Detalles Bibliográficos
Autores principales: Parnell, Stephen C, Magenheimer, Brenda S, Maser, Robin L, Pavlov, Tengis S, Havens, Mallory A, Hastings, Michelle L, Jackson, Stephen F, Ward, Christopher J, Peterson, Kenneth R, Staruschenko, Alexander, Calvet, James P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140781/
https://www.ncbi.nlm.nih.gov/pubmed/29931260
http://dx.doi.org/10.1093/hmg/ddy223