Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency

BACKGROUND: 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 FXI...

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Detalles Bibliográficos
Autores principales: Deng, Jun, Li, Dan, Mei, Heng, Tang, Liang, Wang, Hua-fang, Hu, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950900/
https://www.ncbi.nlm.nih.gov/pubmed/31914974
http://dx.doi.org/10.1186/s12881-019-0944-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950900/
https://www.ncbi.nlm.nih.gov/pubmed/31914974
http://dx.doi.org/10.1186/s12881-019-0944-2

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