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

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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Bibliographic Details
Main Authors: Takahiro Kaido, Masahiro Yoda, Tomu Kamijo, Shinpei Arai, Chiaki Taira, Yumiko Higuchi, Nobuo Okumura
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:International Journal of Molecular Sciences
Subjects:
congenital fibrinogen disorders
hypofibrinogenemia
fibrinogen Bβ chain
fibrinogen Bβγ complex
multiple amino acid sequence alignment
Online Access:https://www.mdpi.com/1422-0067/21/24/9422

Internet

https://www.mdpi.com/1422-0067/21/24/9422

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