Linked Life Data

12759632

Source:http://linkedlifedata.com/resource/pubmed/id/12759632

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2003-5-21
pubmed:abstractText
A nonconsanguineous asymptomatic couple, were identified as carriers of factor VII (FVII) deficiency when two of their newborn children died of massive intracranial hemorrhage secondary to severe congenital FVII deficiency. Complete sequence analysis of the factor VII (F7) gene in this couple indicated that the mother was heterozygous for an A to G transition at position -2 of the exon 5 acceptor splice site, and the father was heterozygous for a G to T transversion at position +1 of the exon 6 donor splice site. This information allowed us to exclude a compound heterozygous deficiency state in a subsequent pregnancy using PCR/direct sequencing of the F7 gene using DNA obtained from chorionic villi at 10 weeks' gestation. Our experience with the family reported here further supports the conclusion that mutation-specific detection is reliable in the prenatal exclusion of severe bleeding disorders.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1077-4114
pubmed:author
pubmed:issnType
Print
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
418-20
pubmed:dateRevised
2011-10-6
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Prenatal exclusion of severe factor VII deficiency.
pubmed:affiliation
University of Malaya Medical Center, Kuala Lumpur, Malaysia. hany@um.edu.my
pubmed:publicationType
Journal Article, Case Reports