title: 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.
authors: M S
authors: MS
authors: Enayat
authors: S
authors: S
authors: Ravanbod
authors: M
authors: M
authors: Rassoulzadegan
authors: M
authors: M
authors: Jazebi
authors: F
authors: F
authors: Ala
authors: U
authors: U
authors: Budde
authors: S
authors: S
authors: Schneppenheim
authors: T
authors: T
authors: Obser
authors: R
authors: R
authors: Schneppenheim
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D002648:Child; D005091:Exons / Q000235:genetics; D005169:Factor VIII / Q000235:genetics; D005260:Female; D057809:HEK293 Cells; D006720:Homozygote; D006801:Humans; D007492:Iran; D008297:Male; D050505:Mutant Proteins / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017434:Protein Structure, Tertiary; D011994:Recombinant Proteins / Q000378:metabolism; D056728:von Willebrand Disease, Type 2 / Q000097:blood / Q000235:genetics*; D014841:von Willebrand Factor / Q000737:chemistry* / Q000235:genetics*
chemical_list: D050505:Mutant Proteins; D011994:Recombinant Proteins; D014841:von Willebrand Factor; D005169:Factor VIII