Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease
结合NGS技术可识别骨骼纤毛病伴早期进行性肾病中鞭毛内转运基因IFT140的突变
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22294
Schmidts, Miriam; Frank, Valeska; Eisenberger, Tobias; Al Turki, Saeed; Bizet, Albane A; Antony, Dinu; Rix, Suzanne; Decker, Christian; Bachmann, Nadine; Bald, Martin; Vinke, Tobias; Toenshoff, Burkhard; Di Donato, Natalia; Neuhann, Theresa; Hartley, Jane L; Maher, Eamonn R; Bogdanović, Radovan; Peco-Antić, Amira; Mache, Christoph; Hurles, Matthew E; Joksić, Ivana; Guć-Šćekić, Marija; Dobricic, Jelena; Brankovic-Magic, Mirjana; Bolz, Hanno J; Pazour, Gregory J; Beales, Philip L; Scambler, Peter J; Saunier, Sophie; Mitchison, Hannah M; Bergmann, Carsten
