Article
A genetic analysis of 23 Chinese patients with hemophilia B.
Scientific reports - 25 Apr 2016
Wang Qing-Yun, Hu Bei, Liu Hui, Tang Liang, Zeng Wei, Wu Ying-Ying, Cheng Zhi-Peng, Hu Yu
Abstract excerpt
Hemophilia B (HB) is an X-linked recessive bleeding disorder caused by mutations in the coagulation factor IX (FIX) gene. Genotyping patients with HB is essential for genetic counseling and provides useful information for patient management. In this study, the F9 gene from 23 patients with HB was analyzed by direct sequencing. Nineteen point mutations were identified, including a novel missense variant...
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