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A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment

OBJECTIVES: Congenital dysfibrinogenemia is a rare hereditary disease characterized by normal antigen level but lower function level of fibrinogen. Patients with congenital dysfibrinogenemia usually present as bleeding and/or thrombotic events. In this study, we explored the genetic abnormality and...

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Detalles Bibliográficos
Autores principales: Zhou, Jihao, Zhu, Peng, Zhang, Xinyou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648974/
https://www.ncbi.nlm.nih.gov/pubmed/29067075
http://dx.doi.org/10.12669/pjms.334.12828