Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

The oculocerebrorenal syndrome of Lowe (OCRL; MIM #309000) is an X-linked human disorder characterized by congenital cataracts, mental retardation, and renal proximal tubular dysfunction caused by loss-of-function mutations in the OCRL gene that encodes Ocrl, a type II phosphatidylinositol bisphosph...

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Detalles Bibliográficos
Autores principales: Bothwell, Susan P., Farber, Leslie W., Hoagland, Adam, Nussbaum, Robert L.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974198/
https://www.ncbi.nlm.nih.gov/pubmed/20872266
http://dx.doi.org/10.1007/s00335-010-9281-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974198/
https://www.ncbi.nlm.nih.gov/pubmed/20872266
http://dx.doi.org/10.1007/s00335-010-9281-7

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