Linked Life Data

17145618

Source:http://linkedlifedata.com/resource/pubmed/id/17145618

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2006-12-5
pubmed:abstractText
Congenital factor V (FV) deficiency is a rare coagulopathy associated with moderate to severe bleeding symptoms. A total of 34 mutations, all located in the FV gene (F5), have been described in patients with severe FV deficiency, only eight of them being of Asian descent. Sequencing of F5 in five unrelated Indian patients identified three novel small deletions in exon 13, all present in the homozygous state (g.50936-50937delAA or AG and g.51660delA, both occurring in two different patients, and g.52162delC). Besides widening the knowledge on the mutational spectrum of FV deficiency in Asian populations, these data will also be useful for purposes of prenatal diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1592-8721
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
91
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1724-6
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions.
pubmed:publicationType
Letter, Research Support, Non-U.S. Gov't