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A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency

BACKGROUND: Factor V (FV) deficiency is a rare disease, with a low incidence rate in Asia. Therefore, the F5 mutation in the Taiwanese population is poorly understood. METHODS: A Chinese family with FV deficiency was included, and the patient and his family members underwent mutation analysis. Then,...

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Detalles Bibliográficos
Autores principales: Chang, Yueh-Shih, Lan, Yi-Cheng, Chen, Ya-Jyun, Huang, Jen-Seng, Yang, Chia-Ning, Huang, Chi-Ying F., Yeh, Kun-Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9219604/
https://www.ncbi.nlm.nih.gov/pubmed/35755047
http://dx.doi.org/10.3389/fmed.2022.870269