Linked Life Data

15337266

Source:http://linkedlifedata.com/resource/pubmed/id/15337266

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2004-8-31
pubmed:abstractText
Wilson's disease is an autosomal recessive disorder of hepatic copper metabolism caused by mutations in a gene encoding a copper-transporting P-type ATPase. We report the clinical and molecular characterization of six members from three unrelated Colombian kindred. Completed sequence DNA analysis linked to the gene ATP-7B from patient wd-1 revealed a novel A to C transversion in exon 17 at position 3856 (A3856C) of the ATP-7B mRNA resulting in a threonine for proline substitution at position 1232 of the ATP-7B protein (T1232P). Additionally, two novel polymorphisms were detected (2785G:Gly875 in exon 11; and intron at +38 a > c:tgcgcccga in exon 19). All affected individuals were homozygous for the T1232P mutation and displayed neurologic and neuropsychiatric dominant onset. This work expands the knowledge about the number, type, and implication of mutations in WD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0304-3940
pubmed:author
pubmed:issnType
Print
pubmed:day
9
pubmed:volume
367
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
360-4
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
New mutation (T1232P) of the ATP-7B gene associated with neurologic and neuropsychiatric dominance onset of Wilson's disease in three unrelated Colombian kindred.
pubmed:affiliation
Neuroscience Research Programme, Department of Internal Medicine, Clinical Neurology Service, School of Medicine, University of Antioquia, Calle 62 #52-72 Medellin, Colombia. cvelezp@quimbaya.udea.edu.co
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't