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Article

Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?

Thrombosis research - 1 Jun 2015

Lannoy N, Lambert C, Vikkula M, Hermans C

Abstract excerpt

Roughly 40% of observed mutations responsible for hemophilia A (HA) are novel and present in either a single family or a limited number of unrelated families. During routine diagnostic analysis of 73 unrelated Belgian patients with mild HA, 4 out of 43 different mutations (p.Ser2030Asn, p.Arg2178Cys, p.Arg2178His, and p.Pro2311His) were detected in more than one family, representing 35% of total identified...

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PMID: 25824987
DOI: 10.1016/j.thromres.2015.03.017

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