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Article

The β-chain mutation p.Trp433Stop impairs fibrinogen secretion: A novel nonsense mutation associated with hypofibrinogenemia.

International journal of laboratory hematology - 1 Dec 2021

Yan Jie, Wu Yangyang, Liao Lin, Xiang Liqun, Qiu Yuling, Lin Faquan

Abstract excerpt

BACKGROUND: Congenital hypofibrinogenemia is characterized by proportional decreases in fibrinogen activity and immunoreactive fibrinogen levels. Here, we describe a new case with the bleeding risk identified in our hospital. METHODS: The proband was cut and bled for 3 h. Coagulation testing, gene analysis, thrombelastogram, sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE), in vitro plasmid...

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Identifiers

PMID: 34185392
DOI: 10.1111/ijlh.13632

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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