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A Novel Amino Acid Substitution, Fibrinogen Bβp.Pro234Leu, Associated with Hypofibrinogenemia Causing Impairment of Fibrinogen Assembly and Secretion

We identified a novel heterozygous variant, Bβp.Pro234Leu (fibrinogen Tokorozawa), which was suspected to be associated with hypofibrinogenemia. Therefore, we analyzed the assembly and secretion of this fibrinogen using Chinese hamster ovary (CHO) cells. To determine the impact on the synthesis and...

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Detalles Bibliográficos
Autores principales:	Kaido, Takahiro, Yoda, Masahiro, Kamijo, Tomu, Arai, Shinpei, Taira, Chiaki, Higuchi, Yumiko, Okumura, Nobuo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7764081/ https://www.ncbi.nlm.nih.gov/pubmed/33322044 http://dx.doi.org/10.3390/ijms21249422

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