Five Novel Mutations in F13B Gene Resulting in Mild FXIII Deficiency

Autor:	V. Ivaskevicius, H. Rott, H. Trobisch, S. Halimeh, I. Scharrer, M. Krause, E. Seifried, J. Oldenburg
Rok vydání:	2008
Předmět:	Genetics Splice site mutation Genotype Intron Extracellular Missense mutation Heterozygote advantage Biology Gene
Zdroj:	37th Hemophilia Symposium ISBN: 9783540735342
DOI:	10.1007/978-3-540-73535-9_61
Popis:	FXIII deficiency is a rare autosomal recessive disorder affecting approximately 1 out of 1–3 million inhabitants. The disease is characterized by bleeding, impaired wound repair and spontaneous abortions in females. Extracellular FXIII molecule has a tetramer structure composing of two catalytic A-subunits and two B-subunits that act as a carrier molecule. Based on genotype there are two types of FXIII deficiency: A-subunit deficiency (XIIIA) when mutations affect F13A gene and much rarely B-subunit deficiency (XIIIB) when mutations affect F13B gene. Both types result in absence of FXIII catalytical activity in plasma.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::71f09bae99b3b2b2099f7946eea377c8 https://doi.org/10.1007/978-3-540-73535-9_61 Zobrazit plný text záznamu