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:

07 Jan 2020 13:31

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)

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