Exploring two mutations in the exon 28 of Von Willebrand genein two patients follow up the Halmshire hospital – university

Two mutations of exon 28 in the Von Willbrand gene have discovered intwopatients (female and male).Specific tests such as the VWF: FVIIIbinding assay, collagen binding assay VWF:CB and VWF proteinanalysis give that VWD is a type of 2A at the gene. Investigating exon 28 by PCR technique and DNA sequencingrevealed mutation A1(C>T) in patientA and a mutationB1(G>A) inpatientB. These mutations are responsible for the presence of VWD. Assuring that natural genes involved in coagulation are well organised and automated.