Linked Life Data

17014892

Source:http://linkedlifedata.com/resource/pubmed/id/17014892

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-4-23
pubmed:abstractText
Different kinds of mutations, mostly point mutations, in the coagulation factor IX (FIX) gene F9 result in a recessive X-linked bleeding disorder known as haemophilia B. In this study, molecular analysis of 76 unrelated Iranian haemophilia B patients was performed by PCR, single strand conformational polymorphism (SSCP) on important functional regions of the F9 gene followed by sequencing on samples with different migration pattern. Using this approach we found mutation in 52 out of 76 patients. Our data showed that the pathologic mechanisms are heterogeneous as recorded for patients in haemophilia B mutation database and seven of the mutations are previously undescribed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0049-3848
pubmed:author
pubmed:issnType
Print
pubmed:volume
120
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
135-9
pubmed:dateRevised
2007-7-17
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Identification of factor IX mutations in Iranian haemophilia B patients by SSCP and sequencing.
pubmed:affiliation
Biotechnology Research Centre, Pasteur Institute of Iran, Tehran 13164, Iran. mortezakarimi@yahoo.com
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't