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Lowe syndrome
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References
These sources were used to develop the Genetics Home Reference
condition summary
on Lowe syndrome.
Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992 Jul 16;358(6383):239-42.
PubMed citation
Erdmann KS, Mao Y, McCrea HJ, Zoncu R, Lee S, Paradise S, Modregger J, Biemesderfer D, Toomre D, De Camilli P. A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway. Dev Cell. 2007 Sep;13(3):377-90.
PubMed citation
Gene Review: Lowe
Syndrome
Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006 May 18;1:16. Review.
PubMed citation
Lowe M. Structure and function of the Lowe syndrome protein OCRL1. Traffic. 2005 Sep;6(9):711-9. Review.
PubMed citation
Reviewed: May 2008
Published: June 17, 2013
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