OCRLMutation analysis in Italian patients with Lowe syndrome

The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X‐linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The gene responsible for OCRL was identified by positional cloning and encodes an inositol polyphosphate‐5‐phosphatase. We performed...

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Bibliographic Details

Published in:	Human mutation Vol. 23; no. 5; pp. 524 - 525
Main Authors:	Addis, Maria, Loi, Mario, Lepiani, Carmen, Cau, Milena, Melis, Maria Antonietta
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-05-2004 Hindawi Limited
Subjects:	Lowe syndrome mutation analysis OCRL Oculocerebrorenal syndrome
Online Access:	Get full text
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