Clinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's population.
Ming-Ching ShenJiaan-Der WangWoei TsaiChing-Yeh LinJen-Shiou LinSu-Feng KuoPo-Te LinYing-Chih HuangMei-Hua HungPublished in: Haemophilia : the official journal of the World Federation of Hemophilia (2021)
Three novel mutations of CFDs causing afibrinogenemia and dysfibrinogenemia were identified. The point mutation in FGB exon 8 is also a common mutation in Taiwan's population. Considerable phenotypic variability among the patients with an identical mutation was observed.
Keyphrases