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Keywords: D1/D2 domain
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Journal Articles

Laboratory and Molecular Characteristics of Recessive von Willebrand Disease Type 2C (2A Subtype IIC) of Variable Severity due to Homozygous or Double Heterozygous Mutations in the D1 and D2 Domains

Subject Area:
Hematology , Oncology
Jan Jacques Michiels, Alain Gadisseur, Marc van der Planken, Wilfried Schroyens, Zwi Berneman
Journal: Acta Haematologica
Acta Haematol (2009) 121 (2-3): 111–118.
https://doi.org/10.1159/000214851
Published Online: 08 June 2009
... of dimers which failed to form intermediate- and high-molecular-weight multimers consistent with the clinical diagnosis of VWD 2C (2A subtype IIC). Carriers of a heterozygous missense mutation in the VWFpp region (D1–D2 domain) of the VWF gene may present mild VWD type 1 and show a typical multimeric...
View article titled, Laboratory and Molecular Characteristics of Recessive von Willebrand Disease Type 2C (2A Subtype IIC) of Variable Severity due to Homozygous or Double Heterozygous Mutations in the D1 and D2 Domains
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