Thromb Haemost 2005; 94(03): 675-677
DOI: 10.1160/TH05-03-0675
Case Report
Schattauer GmbH

First report of two independent point factor VIII mutations in a family with haemophilia A: a word of caution for carrier diagnosis

Eduardo F. Tizzano
1   Department of Genetics, Hospital de Sant Pau, Barcelona, Spain
,
Adoración Venceslá
1   Department of Genetics, Hospital de Sant Pau, Barcelona, Spain
,
Manel Baena
1   Department of Genetics, Hospital de Sant Pau, Barcelona, Spain
,
Mónica Cornet
1   Department of Genetics, Hospital de Sant Pau, Barcelona, Spain
,
María T. Calvo
2   Department of Genetics
,
José F. Lucía
3   Department of Hematology, Hospital Miguel Servet, Zaragoza, Spain
,
Rosario Pérez Garrido
4   Hemophilia Unit. Hospital Virgen del Rocío, Sevilla, Spain
,
Ramiro Núñez
4   Hemophilia Unit. Hospital Virgen del Rocío, Sevilla, Spain
,
Montserrat. Baiget
1   Department of Genetics, Hospital de Sant Pau, Barcelona, Spain
› Author Affiliations

Financial support: This work was supported by Fundació Privada Catalana de l´Hemofilia.
Further Information

Publication History

Received: 30 March 2005

Accepted after major revision: 15 May 2005

Publication Date:
07 December 2017 (online)

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