A Standard Nomenclature for Factor VIII and Factor IX Gene Mutations and Associated Amino Acid Alterations
- 1 January 1994
- journal article
- research article
- Published by Georg Thieme Verlag KG in Thrombosis and Haemostasis
- Vol. 72 (03) , 475-476
- https://doi.org/10.1055/s-0038-1648891
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.Keywords
This publication has 3 references indexed in Scilit:
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- Sequence of the exon-containing regions of the human factor VIII geneHuman Molecular Genetics, 1992
- Structure of human factor VIIINature, 1984