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The normal and abnormal genes of the a and b subunits in coagulation factor XIII.

Authors
  • Ichinose, A
  • Izumi, T
  • Hashiguchi, T
Type
Published Article
Journal
Seminars in thrombosis and hemostasis
Publication Date
Jan 01, 1996
Volume
22
Issue
5
Pages
385–391
Identifiers
PMID: 8989821
Source
Medline
License
Unknown

Abstract

Factor XIII consists of two catalytic a and two noncatalytic b subunits. The gene for the a subunit is located on chromosome 6, the gene for the b subunit on chromosome 1. Both genes have been characterized. There are several different allelic forms of the a subunit in the normal population and some microheterogeneity for the b subunit. Most patients with congenital factor XIII deficiency lack the a subunit in plasma; few patients appear to have a complete lack of the b subunit. The genes from patients with factor XIII deficiencies were obtained and examined. Based on these analyses a new genetic classification for factor XIII deficiency is proposed: a deficiency of the a subunit (formerly termed type II), a deficiency of the b subunit (formerly known as type I), and a possible combined deficiency of both a and b subunits.

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