RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
RSPH3 突变导致原发性纤毛运动障碍,伴有中枢复合体缺陷和径向辐条几乎缺失
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.05.004
Ludovic Jeanson, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Philippe Duquesnoy, Guy Montantin, Jacques Cadranel, Harriet Corvol, André Coste, Julie Désir, Anissa Souayah, Esther Kott, Nathalie Collot, Sylvie Tissier, Bruno Louis, Aline Tamalet, Jacques de Blic, Annick Clement, Estell