Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene

Coagulation Factor XIII is a heterotetrameric protransglutaminase which stabilizes preformed fibrin clots by covalent crosslinking them. Inherited homozygous or compound heterozygous deficiency of coagulation Factor XIII (FXIII) is a rare severe bleeding disorder affecting 1 in 2 million individuals...

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Vydáno v:Hum Genome Var
Hlavní autoři: Thomas, Anne, Ivaškevičius, Vytautas, Zawadzki, Christophe, Goudemand, Jenny, Biswas, Arijit, Oldenburg, Johannes
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4760118/
https://ncbi.nlm.nih.gov/pubmed/27081562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.59
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