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Predicted changes in pre-mRNA secondary structure vary in their association with exon skipping for mutations in exons 2, 4, and 8 of the Hprt gene and exon 51 of the fibrillin gene

✍ Scribed by Meihua Tu; Weida Tong; Roger Perkins; Carrie R Valentine


Book ID
117768014
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
269 KB
Volume
432
Category
Article
ISSN
1383-5726

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von Willebrand Disease (vWD) is the most frequently inherited bleeding disorder in humans, and is caused by a qualitative and/or quantitative abnormality of the von Willebrand factor (vWF). A large number of defects that cause qualitative variants have been located in the A1 domain of the vWF, which