Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. [electronic resource]
Producer: 20090706Description: 106-10 p. digitalISSN:- 1421-9662
- Blood Protein Electrophoresis
- Child
- Child, Preschool
- Codon, Nonsense
- Deamino Arginine Vasopressin -- therapeutic use
- Factor VIII -- analysis
- Female
- Gene Frequency
- Genes, Recessive
- Genetic Heterogeneity
- Genotype
- Humans
- Infant
- Introns -- genetics
- Male
- Mutation, Missense
- Phenotype
- Point Mutation
- Protein Structure, Quaternary
- Protein Structure, Tertiary
- RNA Splice Sites -- genetics
- Retrospective Studies
- von Willebrand Diseases -- classification
- von Willebrand Factor -- analysis
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Publication Type: Journal Article; Review
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