OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.

BACKGROUND/AIMS: Dent disease is an X-linked renal proximal tubulopathy associated with mutations in CLCN5 (Dent 1) or OCRL1 (Dent 2). OCRL1 mutations also cause the oculocerebrorenal syndrome of Lowe. METHODS: Dent patients with normal sequence for CLCN5 were sequenced for mutations in OCRL1. By an...

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Bibliographic Details
Main Authors:	Shrimpton, A, Hoopes, R, Knohl, S, Hueber, P, Reed, A, Christie, P, Igarashi, T, Lee, P, Lehman, A, White, C, Milford, D, Sanchez, MR, Unwin, R, Wrong, O, Thakker, R, Scheinman, S
Format:	Journal article
Language:	English
Published:	2009

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