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Haemophilia A and haemophilia B: molecular insights [review]

Bowen, Derrick John 2002. Haemophilia A and haemophilia B: molecular insights [review]. Molecular Pathology 55 (1) , pp. 1-18. 10.1136/mp.55.1.1

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Abstract

This review focuses on selected areas that should interest both the scientist and the clinician alike: polymorphisms within the factor VIII and factor IX genes, their linkage, and their ethnic variation; a general assessment of mutations within both genes and a detailed inspection of the molecular pathology of certain mutations to illustrate the diverse cause-effect relations that exist; a summary of current knowledge on molecular aspects of inhibitor production; and an introduction to the new areas of factor VIII and factor IX catabolism. An appendix defining various terms encountered in the molecular genetics of the haemophilias is included, together with an appendix providing accession numbers and locus identification links for accessing gene and sequence information in the international nucleic acid databases.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: BMJ
ISSN: 1366-8714
Last Modified: 04 Jun 2017 06:12
URI: http://orca.cf.ac.uk/id/eprint/57309

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