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Molecular characterization of hemophilia B patients in Colombia

BACKGROUND: Hemophilia B (HB) is a coagulation disorder with an X‐linked recessive inheritance pattern, caused by plasma FIX deficiency. In Colombia, HB is considered a rare and high‐cost disease, with 362 males reported in 2017. METHODS: Here, we characterized 20 HB apparently unrelated families by...

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Detalles Bibliográficos
Autores principales: Parrado Jara, Yolima A., Yunis Hazbun, Luz K., Linares, Adriana, Yunis Londoño, Juan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216803/
https://www.ncbi.nlm.nih.gov/pubmed/32155688
http://dx.doi.org/10.1002/mgg3.1210