Identification of novel pathogenic mutations in <i>ATP6V0A4</i> associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease.

鑑定與遠端腎小管性酸中毒相關之新型致病性 ATP6V0A4 突變，及其在腎小球疾病中野生型表現的分析