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Keywords: C2362F
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Journal Articles

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

Subject Area:
Hematology , Oncology
G. Castaman, S. Giacomelli, F. Rodeghiero
Journal: Acta Haematologica
Acta Haematol (2009) 121 (2-3): 106–110.
https://doi.org/10.1159/000214850
Published Online: 08 June 2009
... subjects were heterozygotes for a single C2362F or null mutation and were mostly asymptomatic [ 5,6,7 ], as usually reported for the obligatory heterozygotes of type 3 VWD [ 9 ]. Interestingly, even though the range of measurements is wide and also influenced by blood group, most of these subjects have...
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