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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...

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Detalles Bibliográficos
Autores principales: Cai, Ruimin, Li, Yi, Wang, Wenyang, Feng, Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
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