Castaman, G <br/><br/>
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] 

 -  Acta haematologica  2009 
 - 106-10 p.  digital 
<br/><br/> Publication Type: Journal Article; Review 
<br/><br/><label>ISSN: </label>1421-9662 
<br/><br/><label>Standard No.: </label>10.1159/000214850  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Blood Protein Electrophoresis<br/>Child<br/>Child, Preschool<br/>Codon, Nonsense<br/>Deamino Arginine Vasopressin--therapeutic use<br/>Factor VIII--analysis<br/>Female<br/>Gene Frequency<br/>Genes, Recessive<br/>Genetic Heterogeneity<br/>Genotype<br/>Humans<br/>Infant<br/>Introns--genetics<br/>Male<br/>Mutation, Missense<br/>Phenotype<br/>Point Mutation<br/>Protein Structure, Quaternary<br/>Protein Structure, Tertiary<br/>RNA Splice Sites--genetics<br/>Retrospective Studies<br/>von Willebrand Diseases--classification<br/>von Willebrand Factor--analysis