Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient

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Bibliographic Details
Published in:Haemophilia : the official journal of the World Federation of Hemophilia 2013-07, Vol.19 (4), p.e261-e264
Main Authors: Enayat, M. S., Ravanbod, S., Rassoulzadegan, M., Jazebi, M., Ala, F., Budde, U., Schneppenheim, S., Obser, T., Schneppenheim, R.
Format: Article
Language:English
Subjects:
Amino Acid Substitution - genetics
Child
Exons - genetics
Factor VIII - genetics
Female
HEK293 Cells
Homozygote
Humans
Iran
Male
Mutant Proteins - metabolism
Mutation - genetics
Pedigree
Phenotype
Protein Structure, Tertiary
Recombinant Proteins - metabolism
von Willebrand Disease, Type 2 - blood
von Willebrand Disease, Type 2 - genetics
von Willebrand Factor - chemistry
von Willebrand Factor - genetics
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ISSN:1351-8216
1365-2516
DOI:10.1111/hae.12161