Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA s...
Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency
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Author / Creator
Deng, Jun , Li, Dan , Mei, Heng , Tang, Liang , Wang, Hua-fang and Hu, Yu
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Coagulation factor XIII (FXIII) plays an essential role in maintaining hemostasis by crosslinking fibrin. Deficiency in FXIII affects clot stability and increases the risk of severe bleeding. Congenital FXIII deficiency is a rare disease. Recently, we identified a Chinese family with FXIII deficiency and investigated the pathogenesis of congenital...
Alternative Titles
Full title
Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency
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TN_cdi_doaj_primary_oai_doaj_org_article_47fad1f23ac14cc1867b1e948b12aebd
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_47fad1f23ac14cc1867b1e948b12aebd
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-019-0944-2
