Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
结合长读长测序等方法,可以解决原发性纤毛运动障碍中HYDIN的诊断难题。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01599-7
Fleming, Andrew; Galey, Miranda; Briggs, Lizi; Edwards, Matthew; Hogg, Claire; John, Shibu; Wilkinson, Sam; Quinn, Ellie; Rai, Ranjit; Burgoyne, Tom; Rogers, Andy; Patel, Mitali P; Griffin, Paul; Muller, Steven; Carr, Siobhan B; Loebinger, Michael R; Lucas, Jane S; Shah, Anand; Jose, Ricardo; Mitchison, Hannah M; Shoemark, Amelia; Miller, Danny E; Morris-Rosendahl, Deborah J