High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
CCDC103 p.His154Pro 突变的高发率导致原发性纤毛运动障碍,该突变会破坏蛋白质寡聚化,并且与正常的诊断检查结果相关。
期刊:Thorax
影响因子:7.7
doi:10.1136/thoraxjnl-2017-209999
Shoemark, Amelia; Moya, Eduardo; Hirst, Robert A; Patel, Mitali P; Robson, Evelyn A; Hayward, Jane; Scully, Juliet; Fassad, Mahmoud R; Lamb, William; Schmidts, Miriam; Dixon, Mellisa; Patel-King, Ramila S; Rogers, Andrew V; Rutman, Andrew; Jackson, Claire L; Goggin, Patricia; Rubbo, Bruna; Ollosson, Sarah; Carr, Siobhán; Walker, Woolf; Adler, Beryl; Loebinger, Michael R; Wilson, Robert; Bush, Andrew; Williams, Hywel; Boustred, Christopher; Jenkins, Lucy; Sheridan, Eamonn; Chung, Eddie M K; Watson, Christopher M; Cullup, Thomas; Lucas, Jane S; Kenia, Priti; O'Callaghan, Christopher; King, Stephen M; Hogg, Claire; Mitchison, Hannah M