Linked Life Data

17439325

Source:http://linkedlifedata.com/resource/pubmed/id/17439325

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2007-4-18
pubmed:abstractText
The lecithin:cholesterol acyltransferase (LCAT) gene is located on the long arm of chromosome 16 and encodes a highly conserved enzyme that catalyzes the formation of most plasma lipoprotein cholesteryl esters. Two autosomal recessive disorders, familial LCAT deficiency (FLD) and fish eye disease, are associated with germline LCAT mutations. Patients with FLD and fish-eye disease frequently present with corneal opacity, anemia and renal failure with proteinuria.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-6621
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
483-6
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency.
pubmed:affiliation
Department of Nephrology, University Hospital Freiburg, Freiburg, Germany.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't