Linked Life Data

15108291

Source:http://linkedlifedata.com/resource/pubmed/id/15108291

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2004-4-26
pubmed:databankReference
pubmed:abstractText
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 patients. Eight mutations out of nine had never been described and consisted of truncating mutations (frameshift, nonsense, splice site and genomic deletion), and missense mutations. The mutations were distributed in the second half of the gene as previously described in other populations. In three cases the mutations were absent in the mothers confirming the occurrence of novel mutations in this disorder. Our results on the Italian population are similar to the data previously obtained in other populations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1098-1004
pubmed:author
pubmed:copyrightInfo
Copyright 2004 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
524-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
OCRL mutation analysis in Italian patients with Lowe syndrome.
pubmed:affiliation
Dipartimento Scienze Biomediche e Biotecnologie Università degli studi di Cagliari, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't