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A case of congenital prothrombin deficiency with two concurrent mutations in the prothrombin gene

Congenital prothrombin deficiency is an extremely rare, autosomal recessive bleeding disorder with a prevalence of 1 in 2 million individuals. Here, we report a case of congenital prothrombin deficiency with two concurrent mutations in the prothrombin gene (F2), affecting the heavy B chain. The pati...

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Detalles Bibliográficos
Autores principales: Mansory, Eman M., Bhai, Pratibha, Stuart, Alan, Laudenbach, Lori, Sadikovic, Bekim, Lazo‐Langner, Alejandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105154/
https://www.ncbi.nlm.nih.gov/pubmed/33977210
http://dx.doi.org/10.1002/rth2.12510