mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy
RRAGD 中的 mTOR 激活突变是导致肾小管病和心肌病的病因
期刊:Journal of the American Society of Nephrology
影响因子:10.3
doi:10.1681/ASN.2021030333
Karl P Schlingmann, François Jouret, Kuang Shen, Anukrati Nigam, Francisco J Arjona, Claudia Dafinger, Pascal Houillier, Deborah P Jones, Felix Kleinerüschkamp, Jun Oh, Nathalie Godefroid, Mehmet Eltan, Tülay Güran, Stéphane Burtey, Marie-Christine Parotte, Jens König, Alina Braun, Caro Bos, Maria I