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OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder characterized by congenital cataracts and glaucoma, mental retardation and kidney dysfunction, is caused by mutations in the OCRL gene. OCRL is a phosphoinositide 5-phosphatase that interacts with sma...

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Detalles Bibliográficos
Autores principales: Luo, Na, West, Callah C., Murga-Zamalloa, Carlos A., Sun, Lou, Anderson, Ryan M., Wells, Clark D., Weinreb, Robert N., Travers, Jeffrey B., Khanna, Hemant, Sun, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392109/
https://www.ncbi.nlm.nih.gov/pubmed/22543976
http://dx.doi.org/10.1093/hmg/dds163