Article
Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.
Blood - 1 Oct 1996
Eikenboom J C, Matsushita T, Reitsma P H, Tuley E A, Castaman G, Briët E, Sadler J E
Abstract excerpt
No defects have been reported in moderately severe type 1 von Willebrand disease (vWD) with a clear autosomal dominant inheritance pattern, and the mechanism underlying this form of vWD remains obscure. We have studied a type 1 vWD family with such a dominant phenotype. The entire coding sequence...
Topics
- Alleles
- Biological Transport
- Blood Platelets
- Cell Line
- Cloning, Molecular
- Cysteine
- DNA Mutational Analysis
- Endoplasmic Reticulum
- Female
- Genes, Dominant
- Haplotypes
- Heterozygote
- Humans
- Male
- Pedigree
- Point Mutation
- Protein Structure, Tertiary
- Pseudogenes