Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
紧密连接基因claudin 19 (CLDN19) 的突变与肾脏镁流失、肾功能衰竭和严重的眼部疾病有关。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/508617
Konrad, Martin; Schaller, Andre; Seelow, Dominik; Pandey, Amit V; Waldegger, Siegfried; Lesslauer, Annegret; Vitzthum, Helga; Suzuki, Yoshiro; Luk, John M; Becker, Christian; Schlingmann, Karl P; Schmid, Marcel; Rodriguez-Soriano, Juan; Ariceta, Gema; Cano, Francisco; Enriquez, Ricardo; Juppner, Harald; Bakkaloglu, Sevcan A; Hediger, Matthias A; Gallati, Sabina; Neuhauss, Stephan C F; Nurnberg, Peter; Weber, Stefanie