Linked Life Data

12296619

Source:http://linkedlifedata.com/resource/pubmed/id/12296619

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2002-9-25
pubmed:abstractText
This report describes the first Turkish family to be diagnosed with Bernard-Soulier syndrome. The family consists of nine members (two parents, three sons and four daughters). The parents were first cousins. The index case, a 22 year-old-man, had a history of haemorrhagic diathesis with thrombocytopenia, giant platelets in the peripheral blood smear and a prolonged bleeding time. Refractory idiopathic thrombocytopenic purpura had been diagnosed elsewhere and a splenectomy had been performed six months previously. Ristocetin agglutination of platelets was defective and flow cytometry analysis of platelet membrane glycoprotein showed markedly reduced expression of glycoprotein lb (2.1%). Bernard-Soulier syndrome was diagnosed. Increased mean platelet volume was found in both parents, one son and three daughters. The other son and daughter were normal.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1368-5031
pubmed:author
pubmed:issnType
Print
pubmed:volume
56
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
546-8
pubmed:dateRevised
2007-2-14
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Bernard-Soulier syndrome in a Turkish family.
pubmed:affiliation
Department of Internal Medicine, University of Gaziantep, School of Medicine, Turkey.
pubmed:publicationType
Journal Article, Case Reports