TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
TTC21B 在纤毛病谱系中既包含致病等位基因,也包含修饰等位基因。
期刊:Nature Genetics
影响因子:29
doi:10.1038/ng.756
Davis, Erica E; Zhang, Qi; Liu, Qin; Diplas, Bill H; Davey, Lisa M; Hartley, Jane; Stoetzel, Corinne; Szymanska, Katarzyna; Ramaswami, Gokul; Logan, Clare V; Muzny, Donna M; Young, Alice C; Wheeler, David A; Cruz, Pedro; Morgan, Margaret; Lewis, Lora R; Cherukuri, Praveen; Maskeri, Baishali; Hansen, Nancy F; Mullikin, James C; Blakesley, Robert W; Bouffard, Gerard G; Gyapay, Gabor; Rieger, Susanne; Tönshoff, Burkhard; Kern, Ilse; Soliman, Neveen A; Neuhaus, Thomas J; Swoboda, Kathryn J; Kayserili, Hulya; Gallagher, Tomas E; Lewis, Richard A; Bergmann, Carsten; Otto, Edgar A; Saunier, Sophie; Scambler, Peter J; Beales, Philip L; Gleeson, Joseph G; Maher, Eamonn R; Attié-Bitach, Tania; Dollfus, Hélène; Johnson, Colin A; Green, Eric D; Gibbs, Richard A; Hildebrandt, Friedhelm; Pierce, Eric A; Katsanis, Nicholas