Article
A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree.
Acta haematologica - 1 Jan 2021
Lu Songsong, Lin Weicheng, Ji Huijuan, Su Ming, Zhao Xiaotao, Wang Chengbin
Abstract excerpt
BACKGROUND: Mutations in the F10-coding gene can cause factor X (FX) deficiency, leading to abnormal coagulation activity and severe tendency for hemorrhage. Therefore, identifying mutations in F10 is important for diagnosing congenital FX deficiency. METHODS: We studied a 63-year-old male patient with FX deficiency and 10 of his family members. Clotting and immunological methods were used to determine activated...
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