Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1992-2-28
pubmed:abstractText
The mutant von Willebrand factor (vWf) molecule in type IIB von Willebrand's disease (vWd) has an increased binding affinity for the platelet receptor glycoprotein Ib (GpIb). In previous studies we have confirmed genetic linkage of this phenotype to the vWf gene and in this report we document three recurring missense mutations in the region of the gene that encodes the GpIb binding domain. Two families with type IIB vWd were found to have an arginine to tryptophan substitution at residue 543, three families had a valine to methionine substitution at residue 553, and one kindred had an arginine to glutamine change at amino acid 578. None of these sequence changes were found in 200 normal vWf genes and within each of the six families the mutations were only found in affected subjects. This is strong circumstantial evidence in support of these substitutions representing the disease causing mutations in these families. All three of these substitutions have occurred at CpG dinucleotide sequences, and their polymorphic associations indicate that they represent recurring new mutations. Missense mutations at these sites may represent the underlying genetic pathology in a large number of type IIB vWd families.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0007-1048
pubmed:author
pubmed:issnType
Print
pubmed:volume
79
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
612-7
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Recurring mutations at CpG dinucleotides in the region of the von Willebrand factor gene encoding the glycoprotein Ib binding domain, in patients with type IIB von Willebrand's disease.
pubmed:affiliation
Department of Pathology, Queen's University, Kingston, Ontario, Canada.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't