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Article

An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease.

Haematologica - 1 Jun 2011

Daidone Viviana, Gallinaro Lisa, Grazia Cattini Maria, Pontara Elena, Bertomoro Antonella, Pagnan Antonio, Casonato Alessandra

Abstract excerpt

BACKGROUND: Nucleotide variations not changing protein sequences are considered silent mutations; accumulating data suggest that they can, however, be important in human diseases. DESIGN AND METHODS: We report an altered splicing process induced by a silent substitution (c.7056C>T) in the von Willebrand factor gene in a case of type 1 von Willebrand disease originally classified as lacking von Willebrand factor...

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Identifiers

PMID: 21393328
DOI: 10.3324/haematol.2010.036848
PMCID: PMC3105650

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