Article
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
Nephron. Physiology - 1 Jan 2009
Shrimpton Antony E, Hoopes Richard R, Knohl Stephen J, Hueber Paul, Reed Anita A C, Christie Paul T, Igarashi Takashi, Lee Philip, Lehman Anna, White Colin, Milford David V, Sanchez Manuel Rivero, Unwin Robert, Wrong Oliver M, Thakker Rajesh V, Scheinman Steven J
Abstract excerpt
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 analyzing these and all other OCRL1 mutations reported, a model relating OCRL1 mutations to the resulting disease...
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