Article

A novel fibrinogen gamma-chain mutation, p. γAla327Val, causes structural abnormality of D region and ultimately leads to congenital dysfibrinogenemia

2020-01-30

Abstract excerpt

<h4>ABSTRACT</h4> Congenital dysfibrinogenemia (CD) is a coagulation disorder caused by mutations in the fibrinogen gene, which result in abnormal fibrinogen function. Many studies have confirmed that over half of dysfibrinogenemia cases are asymptomatic. In this study, we aimed to investigate the pathogenesis of CD caused by γ Ala327Val heterozygous mutation, a new mutation, by studying fibrinogen function. Bloo...

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Literature Corpus work: 5042656d-b3e2-5386-9513-acbcfa809bf4
DOI: 10.1101/2020.01.29.925172

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