Characterisation of W1745C and S1783A: two novel mutations causing defective collagen binding in the A3 domain of von Willebrand Factor. Short title: Von Willebrand factor mutants W1745C and S1783A
نویسندگان
چکیده
Katharine Dormandy Haemophilia Centre and Thrombosis Unit, The Royal Free and University College Medical School, London NW3 2QG, United Kingdom. Department of Haematology, Imperial College Academic Health Sciences Centre, Hammersmith Hospital, London W12 0NN, United Kingdom Department of Haematology, Royal Children’s Hospital and Royal Brisbane and Women’s Hospital, Brisbane, Queensland, Australia. Molecular Diagnostics Centre, Manchester Royal Infirmary, Manchester M13 9WL, United Kingdom
منابع مشابه
Genetic Variations in Exon 3 of VWF Gene in Patients with Von Willebrand Disease (VWD) from South-West Iran
Abstract Background Von Willebrand disease (VWD) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. The disease phenotype is due to quantitative and structural/functional defects in Von Willebrand Factor (VWF) which is a glycoprotein with essential role as a carrier of FVIII in circulation and also it serves the function as hemostasis regulato...
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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 features of VWD, but some single nucleotide polymorphisms make the molecu...
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Abstract Background and Aims: Von Willebrand disease is a bleeding disorder caused by quantitative or functional defects in von Willebrand factor. The disease is found in up to 1 percent of the population. The most common symptom is mucocutaneous bleeding. Recently, studies conducted on healthy people showed that the H817Q mutation that previously known to cause von Willebrand...
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Rare missense mutations in the von Willebrand factor (VWF) A3 domain that disrupt collagen binding, have been found in patients with a mild bleeding phenotype. However, the analysis of these aberrant VWF-collagen interactions has been limited. Here, we have developed mouse models of collagen binding mutants and analyzed the function of the A3 domain using comprehensive in vitro and in vivo appr...
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