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Thromb Haemost 1994; 72(03): 475-476
DOI: 10.1055/s-0038-1648891
Scientific and Standardization Committee Communications
Schattauer GmbH Stuttgart

A Standard Nomenclature for Factor VIII and Factor IX Gene Mutations and Associated Amino Acid Alterations

On behalf of the ISTH SSC Subcommittee on Factor VIII and Factor IX
Ian Peake
1   The Department of Medicine and Pharmacology, Section of Molecular Genetics, University of Sheffield, London, UK
,
Edward Tuddenham
2   Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
› Author Affiliations
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Publication Date:
25 July 2018 (online)

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Abstract

The exponential increase in reported mutations within the factor VIII and IX genes in patients with haemophilia A and B has resulted in the use of several different systems for reporting such mutations. The Factor VIII/IX Subcommittee believe that a standardised reporting system will be beneficial to all interested in the field of haemophilia genetics. This article contains proposals for a mutation nomenclature based on general working practices and standardised to the present state of our knowledge of the sequence and structure of the factor VIII and IX genes.

 

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