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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1998-7-1
|
| pubmed:abstractText |
We report a case of Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of the bilirubin UDP-glucuronosyltransferase gene. Homozygous missense mutations of the gene have previously been recognized as responsible for Crigler-Najjar syndrome type II. We conclude that Gilbert syndrome in some patients results from homozygous missense mutations of the UDP-glucuronosyltransferase gene.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0022-3476
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
132
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1045-7
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9627603-Child,
pubmed-meshheading:9627603-Exons,
pubmed-meshheading:9627603-Female,
pubmed-meshheading:9627603-Gilbert Disease,
pubmed-meshheading:9627603-Glucuronosyltransferase,
pubmed-meshheading:9627603-Homozygote,
pubmed-meshheading:9627603-Humans,
pubmed-meshheading:9627603-Mutation,
pubmed-meshheading:9627603-Polymerase Chain Reaction
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.
|
| pubmed:affiliation |
Department of Pediatrics, Shiga University of Medical Science, Japan.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|