Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis

Autor: Yue, Zhihui, Lin, Hongrong, Li, Min, Wang, Haiyan, Liu, Ting, Hu, Miaoyue, Chen, Huamu, Tong, Huajuan, Sun, Liangzhong

Publikováno v: In Clinica Chimica Acta July 2020 506:136-144

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis.

Autor: Li D; Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China., Hu M; Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China., Chen H; Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China., Wu X; Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China., Wei X; Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China., Lin H; Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China., Gao X; Department of Physiology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China., Wang H; Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China., Li M; Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China., Ong ACM; Kidney Genetics Group, Academic Nephrology Unit, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UK., Yue Z; Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China., Sun L; Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2021 Dec 27; Vol. 31 (2), pp. 232-243.