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A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report
BACKGROUND: Factor XIII (FXIII) deficiency is an extremely rare bleeding disorder that is commonly due to mutations in the FXIIIA subunit gene (F13A1), and it has been reported to have a prevalence of one per 2 million. We describe a new genetic variant in the F13A1 gene that caused a patient to suf...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7650518/ https://www.ncbi.nlm.nih.gov/pubmed/32883222 http://dx.doi.org/10.1186/s12881-020-01111-0 |