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

Abstract:

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 (Dent 2 or Lowe's) was developed. RESULTS: Six boys with Dent disease had novel OCRL1...

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Publication status:
Published

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Publisher copy:
10.1159/000213506

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Journal:
Nephron. Physiology
Volume:
112
Issue:
2
Pages:
p27-p36
Publication date:
2009-01-01
DOI:
EISSN:
1660-2137
ISSN:
1660-8151
Source identifiers:
34698

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