Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. Mutations in the OCRL1 gene have been associated with the disease. OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns[4,5]P2) 5-phosphatase. We...

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Détails bibliographiques
Auteurs principaux: Satre, V, Monnier, N, Berthoin, F, Ayuso, C, Joannard, A, Jouk, P S, Lopez-Pajares, I, Megabarne, A, Philippe, H J, Plauchu, H, Torres, M L, Lunardi, J
Format: Artigo
Langue:Inglês
Publié: 1999
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378076/
https://ncbi.nlm.nih.gov/pubmed/10364518
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