2010
DOI: 10.3324/haematol.2009.017210
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Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function

Abstract: BackgroundSevere 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. Design and MethodsWe analyzed ten index patients and three relatives for f… Show more

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Cited by 41 publications
(69 citation statements)
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“…A number of mutations in the gene for FXIII-A have been identified in patients with its deficiency (12,13,18,32). These natural mutations are highly heterogeneous.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…A number of mutations in the gene for FXIII-A have been identified in patients with its deficiency (12,13,18,32). These natural mutations are highly heterogeneous.…”
Section: Discussionmentioning
confidence: 99%
“…The FXIII-A cDNA encodes a mature protein of 731 amino acids, including an activation peptide of 37 residues at the amino-terminus and a catalytic Cys314 residue (11). To date, $100 mutations in the gene for FXIII-A have been identified in patients with FXIII-A deficiency (http://www.f13-database.de) (12,13). These mutations are highly heterogeneous and include a variety of nonsense and missense mutations, deletions and insertions with or without frame-shift/premature termination, splicing abnormalities, etc.…”
mentioning
confidence: 99%
“…This finding suggests that the C-terminal part of b-barrel 2 is essential for the expression of FXIII activity. Ivaskevicius et al [19 ] also described a novel homozygous mutation resulting in a stop codon in the same area of b-barrel 2 (c.1994G>A; p.Trp664X). Unfortunately, in this case, FXIII antigen level was not reported and the subtype of deficiency could not be established.…”
Section: Classification Of Fxiii Deficienciesmentioning
confidence: 99%
“…The frequency of mild congenital FXIII deficiency is unknown [5]. FXIII is the last enzyme to be activated in the blood coagulation pathway and functions to cross-link a and g-fibrin chains, strengthening the clot, and increasing resistance to fibrinolysis [6].…”
Section: Introductionmentioning
confidence: 99%