Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variab...

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Detalles Bibliográficos
Autores principales: Duran, Daniel, Jin, Sheng Chih, DeSpenza, Tyrone, Nelson-Williams, Carol, Cogal, Andrea G, Abrash, Elizabeth W, Harris, Peter C, Lieske, John C, Shimshak, Serena JE, Mane, Shrikant, Bilguvar, Kaya, DiLuna, Michael L, Günel, Murat, Lifton, Richard P, Kahle, Kristopher T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143364/
https://www.ncbi.nlm.nih.gov/pubmed/28018608
http://dx.doi.org/10.1038/hgv.2016.42

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