TY  - GEN
AU  - Castaman,G
AU  - Giacomelli,S
AU  - Rodeghiero,F
TI  - 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
SN  - 1421-9662
PY  - 2009///0706
KW  - Blood Protein Electrophoresis
KW  - Child
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Deamino Arginine Vasopressin
KW  - therapeutic use
KW  - Factor VIII
KW  - analysis
KW  - Female
KW  - Gene Frequency
KW  - Genes, Recessive
KW  - Genetic Heterogeneity
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Introns
KW  - genetics
KW  - Male
KW  - Mutation, Missense
KW  - Phenotype
KW  - Point Mutation
KW  - Protein Structure, Quaternary
KW  - Protein Structure, Tertiary
KW  - RNA Splice Sites
KW  - Retrospective Studies
KW  - von Willebrand Diseases
KW  - classification
KW  - von Willebrand Factor
N1  - Publication Type: Journal Article; Review
UR  - https://doi.org/10.1159/000214850
ER  -