Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis.

Abstract excerpt

von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, results from abnormalities in the plasma clotting protein von Willebrand factor (vWF). Severe (type III) vWD is autosomal recessive in inheritance and is associated with extremely low or undetectable vWF levels. We report a method designed to distinguish mRNA expression from the two vWF alleles by PCR analysis of peripheral blood...

Topics

• Alleles
• Base Sequence
• Exons
• Gene Expression
• Haplotypes
• Humans
• Molecular Sequence Data
• Oligonucleotides
• Pedigree
• Polymerase Chain Reaction