Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2010-7-1
pubmed:abstractText
This report describes two patients hospitalised in Hepatology Unit, Infectious Diseases Department Medical University of Gdansk because of liver damage discovered in family doctor's practice. Hereditary hemochromatosis was diagnosed in both cases. Diagnosis was established basing on medical records review, and biochemical, molecular and liver specimen tests. The analysis of polymorphism of UGT1A1 gene was done in these cases because those patients were a part of the larger study on prevalence of UGT1A1 gene mutations in patients with hereditary hemochromatosis. We discovered rare variant forms of UGT1A1 gene coexisting with HFE gene mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1898-4002
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
55
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
108-10
pubmed:dateRevised
2010-12-20
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Coexistence of HFE and rare UGT1A1 genes mutations in patients with iron overload related liver injury.
pubmed:affiliation
Department of Infectious Diseases, Medical University of Gdansk, Gdansk, Poland. ksikorska@amg.gda.pl
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't