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; Adoración Venceslá; Manel Baena; Mónica Cornet; María T. Calvo; José F. Lucía; Rosario Pérez Garrido; Ramiro Núñez; Montserrat. Baiget

doi:10.1160/TH05-03-0675

Thrombosis and Haemostasis, Table of Contents

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

¹Department of Genetics, Hospital de Sant Pau, Barcelona, Spain

,

Adoración Venceslá

¹Department of Genetics, Hospital de Sant Pau, Barcelona, Spain

,

Manel Baena

¹Department of Genetics, Hospital de Sant Pau, Barcelona, Spain

,

Mónica Cornet

¹Department of Genetics, Hospital de Sant Pau, Barcelona, Spain

,

María T. Calvo

²Department of Genetics

,

José F. Lucía

³Department of Hematology, Hospital Miguel Servet, Zaragoza, Spain

,

Rosario Pérez Garrido

⁴Hemophilia Unit. Hospital Virgen del Rocío, Sevilla, Spain

,

Ramiro Núñez

⁴Hemophilia Unit. Hospital Virgen del Rocío, Sevilla, Spain

,

Montserrat. Baiget

¹Department of Genetics, Hospital de Sant Pau, Barcelona, Spain

› Author Affiliations

Abstract

Full Text

References

References
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