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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 Hung
Published 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
  • gene expression
  • copy number