Linked Life Data

16643211

Source:http://linkedlifedata.com/resource/pubmed/id/16643211

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2006-4-28
pubmed:abstractText
Bleeding symptoms and clotting activity vary among mutations that alter mRNA splicing of either the factor VIII or factor IX genes. We analyzed splicing mutations in both genes for changes in individual information (R(i), in bits) involving both donor or acceptor sites. Mutations with low or negative R(i) values (<2.4 bits) or significant changes in R(i) (DeltaR(i) > or = 7 bits) exhibited either reduced protein activity, increased clotting time and bleeding frequency and were predictive of severe disease. Thus, information analysis of splicing mutations may be useful in predicting phenotypes in hemophilia.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1351-8216
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
258-62
pubmed:dateRevised
2009-10-21
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Predicting severity of haemophilia A and B splicing mutations by information analysis.
pubmed:affiliation
Department of Cardiology, University Hospital Eppendorf, Hamburg, Germany.
pubmed:publicationType
Journal Article