A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias
一种新型的33基因靶向重测序检测方法可提供准确的临床级诊断,并改善罕见遗传性贫血症的患者管理。
期刊:British Journal of Haematology
影响因子:3.8
doi:10.1111/bjh.14221
Roy, Noémi B A; Wilson, Edward A; Henderson, Shirley; Wray, Katherine; Babbs, Christian; Okoli, Steven; Atoyebi, Wale; Mixon, Avery; Cahill, Mary R; Carey, Peter; Cullis, Jonathan; Curtin, Julie; Dreau, Helene; Ferguson, David J P; Gibson, Brenda; Hall, Georgina; Mason, Joanne; Morgan, Mary; Proven, Melanie; Qureshi, Amrana; Sanchez Garcia, Joaquin; Sirachainan, Nongnuch; Teo, Juliana; Tedgård, Ulf; Higgs, Doug; Roberts, David; Roberts, Irene; Schuh, Anna