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• W2079971383 abstract "von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, can result from either a quantitative or a qualitative defect in the adhesive glycoprotein, von Willebrand factor (vWF). Molecular studies of vWD have been limited by the large size of the vWF gene and difficulty in obtaining the vWF mRNA from patients. By use of an adaptation of the polymerase chain reaction, vWF mRNA was amplified and sequenced from peripheral blood platelets. A silent vWF allele was identified, resulting from a cis defect in vWF mRNA transcription or processing. In two type IIA vWD patients, two different but adjacent missense mutations were identified, the locations of which may identify an important vWF functional domain. Expression in heterologous cells of recombinant vWF containing one of these latter mutations reproduced the characteristic structural abnormality seen in type IIA vWD plasma." @default.
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• W2079971383 date "1989-05-01" @default.
• W2079971383 modified "2023-10-15" @default.
• W2079971383 title "Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA." @default.
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• W2079971383 doi "https://doi.org/10.1073/pnas.86.10.3723" @default.
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