Linked Life Data

12544487

Source:http://linkedlifedata.com/resource/pubmed/id/12544487

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6 Suppl
pubmed:dateCreated
2003-1-24
pubmed:abstractText
Wilson disease, an autosomal recessive disorder of copper transport, is probably the most common inherited metabolic disorder in Korea. In Wilson disease, synthesis of a defective copper transporting enzyme leads to the accumulation of copper in the liver, brain, and kidney. The product of the Wilson disease gene is a copper transporting P-type ATPase (ATP7B). In this study, efforts were made to identify novel mutations and investigate the frequency of the common mutations in Korean patients with Wilson disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1098-3600
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
43S-48S
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
pubmed:affiliation
Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't