Article
A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.
Blood - 15 Jul 2000
Allen S, Abuzenadah A M, Hinks J, Blagg J L, Gursel T, Ingerslev J, Goodeve A C, Peake I R, Daly M E
Abstract excerpt
In this report we describe the molecular defect underlying partial and severe quantitative von Willebrand factor (VWF) deficiencies in 3 families previously diagnosed with types 1 and 3 Von Willebrand-disease. Analysis of the VWF gene in affected family members revealed a novel C to T transition at nucleotide 1067 of the VWF complemetary DNA (cDNA), predicting substitution of arginine by tryptophan at amino acid...
Topics
- Amino Acid Sequence
- Animals
- Calcium-Binding Proteins
- Calnexin
- Calreticulin
- Consanguinity
- Dimerization
- Female
- Homozygote
- Humans
- Male
- Mice
- Molecular Sequence Data
- Mutation