A novel fibrinogen γ-chain frameshift mutation, p. Cys365Phefs*41, causing hypofibrinogenemia with bleeding phenotype in a Chinese family

BACKGROUND: Congenital hypofibrinogenemia is a rare bleeding disease that is classified as the quantitative deficient type. In the present study, investigated the relationship between the genotype and phenotype in a family with hypofibrinogenemia. METHODS: The proband was aware of a predisposition t...

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Detalles Bibliográficos
Autores principales: Zhou, Weijie, Huang, Yan, Wei, Jie, Wang, Jun Li, Huang, Boming, Zhou, Xiaoxuan, Yan, Jie, Wu, Yangyang, Lin, Faquan, Wen, Wangrong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8422118/
https://www.ncbi.nlm.nih.gov/pubmed/34532445
http://dx.doi.org/10.21037/atm-21-3207

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