A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness
EHD1基因的创始突变表现为肾小管蛋白尿和耳聋
期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.2021101312
Issler, Naomi; Afonso, Sara; Weissman, Irith; Jordan, Katrin; Cebrian-Serrano, Alberto; Meindl, Katrin; Dahlke, Eileen; Tziridis, Konstantin; Yan, Guanhua; Robles-López, José M; Tabernero, Lydia; Patel, Vaksha; Kesselheim, Anne; Klootwijk, Enriko D; Stanescu, Horia C; Dumitriu, Simona; Iancu, Daniela; Tekman, Mehmet; Mozere, Monika; Jaureguiberry, Graciana; Outtandy, Priya; Russell, Claire; Forst, Anna-Lena; Sterner, Christina; Heinl, Elena-Sofia; Othmen, Helga; Tegtmeier, Ines; Reichold, Markus; Schiessl, Ina Maria; Limm, Katharina; Oefner, Peter; Witzgall, Ralph; Fu, Lifei; Theilig, Franziska; Schilling, Achim; Shuster Biton, Efrat; Kalfon, Limor; Fedida, Ayalla; Arnon-Sheleg, Elite; Ben Izhak, Ofer; Magen, Daniella; Anikster, Yair; Schulze, Holger; Ziegler, Christine; Lowe, Martin; Davies, Benjamin; Böckenhauer, Detlef; Kleta, Robert; Falik Zaccai, Tzipora C; Warth, Richard
