Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
TULP3基因突变导致儿童和成人出现进行性肝脏、肾脏和心脏退化
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.03.015
Devane, John; Ott, Elisabeth; Olinger, Eric G; Epting, Daniel; Decker, Eva; Friedrich, Anja; Bachmann, Nadine; Renschler, Gina; Eisenberger, Tobias; Briem-Richter, Andrea; Grabhorn, Enke Freya; Powell, Laura; Wilson, Ian J; Rice, Sarah J; Miles, Colin G; Wood, Katrina; Trivedi, Palak; Hirschfield, Gideon; Pietrobattista, Andrea; Wohler, Elizabeth; Mezina, Anya; Sobreira, Nara; Agolini, Emanuele; Maggiore, Giuseppe; Dahmer-Heath, Mareike; Yilmaz, Ali; Boerries, Melanie; Metzger, Patrick; Schell, Christoph; Grünewald, Inga; Konrad, Martin; König, Jens; Schlevogt, Bernhard; Sayer, John A; Bergmann, Carsten