Target capture next‐generation sequencing in non‐inversion haemophilia: an alternative approach

Li, Qiang; Chen, Juanjuan; Lin, Shiu-Shiung; Huang, Lv‐Yin; Yang, Xu; Li, Fenxia; Jin, Wangjie; Li, Yihong; Han, Bo‐Wei; Xiong, Yufeng; Fan, Daiming; Luo, Dixian; Li, Liyan; Yang, Xiaobo

doi:10.1111/bjh.16584

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“…It has been reported that 1.3%–7.8% of HB cases had more than one mutation (Goodeve, 2015). In our study, two of 76 HB pedigrees carried double candidate mutations (briefly mentioned in Li et al, 2020). One patient from pedigree HB25 carried the mutations c.3169G>A(p.Ile2164Val) in the F8 gene and c.1294G>A(p.Gly432Ser) in the F9 gene.…”

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confidence: 78%