Article
Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin.
Thrombosis and haemostasis - 1 Apr 1998
Eikenboom J C, Castaman G, Vos H L, Bertina R M, Rodeghiero F
Abstract excerpt
The genetic defects causing recessive type 1 and type 3 von Willebrand disease (VWD) in eight families from the northern part of Italy have been investigated. Mutations were identified in 14 of the 16 disease-associated von Willebrand factor (VWF) genes. Only one mutation, a stop codon in exon 45...
Topics
- DNA Mutational Analysis
- Exons
- Female
- Gene Conversion
- Genes, Recessive
- Haplotypes
- Humans
- Italy
- Male
- Pedigree
- Phenotype
- Point Mutation
- Prevalence
- RNA Splicing
- Sequence Deletion
- von Willebrand Diseases
- von Willebrand Factor