Article
A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.
British journal of haematology - 1 Mar 1992
Peerlinck K, Eikenboom J C, Ploos Van Amstel H K, Sangtawesin W, Arnout J, Reitsma P H, Vermylen J, Briët E
Abstract excerpt
We describe a patient with a lifelong bleeding disorder previously classified as von Willebrand's disease (vWD) type I. The factor VIII (FVIII) level in this patient was disproportionately low and we showed that this was due to a decreased factor VIII binding capacity of her vWF. To characterize the molecular defect in this type of vWD, a cDNA-dependent polymerase chain reaction (PCR) amplification was performed...
Topics
- Adult
- Alleles
- Arginine
- Base Sequence
- Factor VIII
- Female
- Glutamine
- Heterozygote
- Humans
- Molecular Sequence Data