A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
一种由COL4A4致病变异引起的常染色体隐性遗传性阿尔波特综合征是罗姆人中大多数遗传性肾衰竭的病因。
期刊:Frontiers in Medicine
影响因子:3
doi:10.3389/fmed.2023.1096869
Plevova, Pavlina; Indrakova, Jana; Savige, Judy; Kuhnova, Petra; Tvrda, Petra; Cerna, Dita; Hilscherova, Sarka; Kudrejova, Monika; Polendova, Daniela; Jaklova, Radka; Langova, Martina; Jahnova, Helena; Lastuvkova, Jana; Dusek, Jiri; Gut, Josef; Vlckova, Marketa; Solarova, Pavla; Kreckova, Gabriela; Kantorova, Eva; Soukalova, Jana; Slavkovsky, Rastislav; Zapletalova, Jana; Tichy, Tomas; Thomasova, Dana
