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Article

OCRL mutation analysis in Italian patients with Lowe syndrome.

Human mutation - 1 May 2004

Addis Maria, Loi Mario, Lepiani Carmen, Cau Milena, Melis Maria Antonietta

Abstract excerpt

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 the molecular analysis in 9 Italian patients and 26 relatives and we detected the mutations in all the examined...

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Source

Identifiers

PMID: 15108291
DOI: 10.1002/humu.9239

Genes

OCRL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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