Linked Life Data

19432928

Source:http://linkedlifedata.com/resource/pubmed/id/19432928

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2009-5-12
pubmed:abstractText
Blood coagulation evaluation performed preoperatively in two unrelated girls with isolated prolongation of the activated partial thromboplastin time (APTT) and no family history of bleeding disorder revealed a mild factor VIII deficiency. Quantitative and qualitative defect of von Willebrand factor was not present. Genetic analysis of the F8 gene identified no mutations. In contrast, quantitative gene screening using multiplex ligation dependent probe amplification (MLPA) revealed a large heterozygous deletion of the F8 gene in both patients consistent with a carrier status of sporadic severe haemophilia A. This report illustrates that MLPA technique represents an efficient method to screen for large F8 gene deletions in sporadic undiagnosed carriers of haemophilia A.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1365-2516
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
797-801
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency.
pubmed:affiliation
Center of Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium. nathalie.lannoy@uclouvain.be
pubmed:publicationType
Journal Article, Case Reports