Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
单等位基因致病性 ALG5 变异导致非典型多囊肾病和间质纤维化
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.06.013
Hugo Lemoine, Loann Raud, François Foulquier, John A Sayer, Baptiste Lambert, Eric Olinger, Siriane Lefèvre, Bertrand Knebelmann, Peter C Harris, Pascal Trouvé, Aurore Desprès, Gabrielle Duneau, Marie Matignon, Anais Poyet, Noémie Jourde-Chiche, Dominique Guerrot, Sandrine Lemoine, Guillaume Seret,