The role of exon 45 and 16 in the pathogenesis of Von Willebrand disease in Iranian Patients

نویسندگان
Yavarian, M ID 1
Keikhaee, B ID 2
Nasiri , M ID 3
Galehdari, H ID 4
Darbouy, M ID 5

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چکیده

Abstract Background Von Willebrand disease (VWD) is an autosomal recessive congenital bleeding disorder with deficiency or dysfunction of von Willebrand factor (VWF). The gene encoding for the VWF is located on chromosome 12, which is 178 Kb with 52 exons. Various mutations of this gene is responsible for the clinical ...

کلیدواژه‌ها
Von Willebrand disease, Von Willebrand Factor, Single Nucleotide Polymorphism (SNP), Mutation, PCR-Sequencing