Article
Cosegregation of von Willebrand factor gene polymorphisms and possible germinal mosaicism in type IIB von Willebrand disease.
Blood - 1 Apr 1991
Murray E W, Giles A R, Bridge P J, Peake I R, Lillicrap D P
Abstract excerpt
Recent reports of the mutations resulting in von Willebrand disease (vWD) have indicated that some cases of type IIA vWD are caused by single nucleotide substitutions in the gene encoding von Willebrand factor (vWF). However, the molecular pathogenesis of type IIB vWD remains unresolved and, with the complex posttranslational processing required for fully functional vWF, the mutations responsible for this...
Topics
- Base Sequence
- Blood Coagulation
- DNA Probes
- Female
- Genes
- Humans
- Male
- Molecular Sequence Data
- Molecular Weight
- Mosaicism
- Mutation
- Oligonucleotide Probes