Article
C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX.
American journal of hematology - 1 Feb 2004
Penas Norma, Pérez Almudena, González-Boullosa Rosario, Batlle Javier
Abstract excerpt
Most of type 2A von Willebrand disease (VWD) mutations are clustered within the A2 domain of VWF, encoded by the 3' region of exon 28 of the von Willebrand factor (VWF) gene. A patient with lifelong and severe bleeding diathesis and laboratory data of type 2A VWD is described. The analysis of the complete exon 28 of the VWF gene showed a 3815 G-->C change within the A1 domain, resulting in the C1272S missense...
Topics
- Adult
- Amino Acid Substitution
- Base Sequence
- DNA
- DNA Primers
- Exons
- Female
- Humans
- Mutation, Missense
- Phenotype
- Platelet Glycoprotein GPIb-IX Complex
- Reference Values
- von Willebrand Diseases