A novel mutation (Leu817Pro) causing type 2A von Willebrand disease.

doi:10.1046/j.1365-2141.1996.00301.x

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Article

A novel mutation (Leu817Pro) causing type 2A von Willebrand disease.

British journal of haematology - 1 Jan 1996

Gemmati D, Serino M L, Moratelli S, Ballerini G, Furbetta M, Lunghi B, Marchetti G, Bernardi F

Abstract excerpt

We studied a patient affected by von Willebrand disease type 2A who experienced several mild bleeding episodes and was characterized by markedly reduced haemostatic parameters. In the exon 28 of von Willebrand factor (vWF) gene a T to C transition at nucleotide 8680, resulting in the missense mut...

Topics

Base Sequence
Humans
Leucine
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Proline
von Willebrand Diseases
von Willebrand Factor

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