Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function

Ivaskevicius, Vytautas; Biswas, Arijit; Bevans, Carville; Schroeder, Verena; Kohler, Hans Peter; Rott, Hannelore; Halimeh, Susan; Petrides, Petro E; Lenk, Harald; Krause, Manuele; Miterski, Bruno; Harbrecht, Ursula; Oldenburg, Johannes (2010). Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function. Haematologica - the hematology journal, 95(6), pp. 956-962. Pavia: Ferrata-Storti Foundation 10.3324/haematol.2009.017210

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Severe hereditary coagulation factor XIII deficiency is a rare homozygous bleeding disorder affecting one person in every two million individuals. In contrast, heterozygous factor XIII deficiency is more common, but usually not associated with severe hemorrhage such as intracranial bleeding or hemarthrosis. In most cases, the disease is caused by F13A gene mutations. Causative mutations associated with the F13B gene are rarer.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory
UniBE Contributor:	Schröder, Verena
ISSN:	0390-6078
Publisher:	Ferrata-Storti Foundation
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 14:08
Last Modified:	05 Dec 2022 14:00
Publisher DOI:	10.3324/haematol.2009.017210
PubMed ID:	20179087
Web of Science ID:	000279051100017
URI:	https://boris.unibe.ch/id/eprint/680 (FactScience: 200368)