Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked human genetic disorder characterized by mental retardation, congenital cataracts, and renal tubular dysfunction. The Lowe syndrome gene, OCRL1, encodes a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi complex. The pathoge...

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Bibliografiske detaljer
Main Authors: Jänne, P A, Suchy, S F, Bernard, D, MacDonald, M, Crawley, J, Grinberg, A, Wynshaw-Boris, A, Westphal, H, Nussbaum, R L
Format: Artigo
Sprog:Inglês
Udgivet: 1998
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC508792/
https://ncbi.nlm.nih.gov/pubmed/9593760
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