Format

Send to:

Choose Destination
See comment in PubMed Commons below
Mol Pathol. 2002 Apr;55(2):127-44.

Haemophilia A and haemophilia B: molecular insights.

Author information

  • 1Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, UK. bowendj1@cf.ac.uk

Erratum in

  • Mol Pathol 2002 Jun;55(3):208.

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.

Corrected and republished from

PMID:
11950963
[PubMed - indexed for MEDLINE]
PMCID:
PMC1187163
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Write to the Help Desk