Molecular diagnosis of solute carrier family 4 member 1 (SLC4A1) mutation-related autosomal recessive distal renaltubular acidosis

由 Nipaporn Deejai, Suwannee Wisanuyotin, Choochai Nettuwakul, Sookkasem Khositseth, Nunghathai Sawasdee, Kiattichai Saetai, Pathai Yenchitsomanus, Nanyawan Rungroj
出版 2020

A novel loss-of-function mutation of PBK associated with human kidney stone disease

由 Choochai Nettuwakul, Nunghathai Sawasdee, Oranud Praditsap, Nanyawan Rungroj, Arnat Pasena, Thanyaporn Dechtawewat, Nipaporn Deejai, Suchai Sritippayawan, Santi Rojsatapong, Wipada Chaowagul, Pa thai Yenchitsomanus
出版 2020