Article
Clinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's population.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2021
Shen Ming-Ching, Wang Jiaan-Der, Tsai Woei, Lin Ching-Yeh, Lin Jen-Shiou, Kuo Su-Feng, Lin Po-Te, Huang Ying-Chih, Hung Mei-Hua
Abstract excerpt
INTRODUCTION: Congenital fibrinogen disorders (CFDs) are caused by mutations in fibrinogen-encoding genes, FGA, FGB, and FGG, which lead to quantitative or qualitative abnormalities of fibrinogen. Although the diagnosis of CFDs is based on antigenic and functional level of fibrinogen, few genotypes are clearly correlated with phenotype. METHODS: In this study, we investigated all of the referred patients...
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