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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 mutation Leu817Pro, was found in the heterozygous form in the patient and in two affected relatives. As suggested by the...

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Source

Identifiers

PMID: 8562403
DOI: 10.1046/j.1365-2141.1996.00301.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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