Linked Life Data

15810916

Source:http://linkedlifedata.com/resource/pubmed/id/15810916

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2005-4-6
pubmed:abstractText
We report the usefulness of a dinucleotide GT repeat in intron 1 of the factor 8 gene in carrier diagnosis of haemophilia A (HA). We analyzed 47 women from HA families in which the mutation was not identified in the index case and in which the common intragenic polymorphic markers were uninformative. The intron 1 GT repeat was useful to identify the X chromosome with the mutation in 19 of them. The analysis of this easily detectable marker in conjunction with other current markers may facilitate X chromosome identification in a large proportion of HA families.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1351-8216
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
142-4
pubmed:dateRevised
2009-10-21
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Utility of a (GT) dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis.
pubmed:affiliation
Department of Genetics, Hospital of Sant Pau, Barcelona, Spain. etizzano@hsp.santpau.es
pubmed:publicationType
Journal Article