Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants.

doi:10.1002/(sici)1096-8652(199809)59:1<57::aid-ajh11>3.0.co;2-z

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Article

Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants.

American journal of hematology - 1 Sept 1998

Casaña P, Martínez F, Espinós C, Haya S, Lorenzo J I, Aznar J A

Abstract excerpt

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, wh...

Topics

Amino Acid Substitution
DNA Primers
DNA, Complementary
Exons
Gene Amplification
Genetic Variation
Humans
Mutation
Pedigree
von Willebrand Factor

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