The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood
在具有局灶节段性肾小球硬化症代表性的捷克成年人群中,NPHS2 基因中最常见的创始致病变异 c.868G > A (p.Val290Met) 与病情较轻且儿童期易被漏诊有关
期刊:Frontiers in Medicine
影响因子:
doi:10.3389/fmed.2023.1320054
Dana Thomasová, Michaela Zelinová, Malgorzata Libik, Jan Geryk, Pavel Votýpka, Silvie Rajnochová Bloudíčková, Karel Krejčí, Jana Reiterová, Eva Jančová, Jana Machová, Martina Kollárová, Ivan Rychík, Martin Havrda, Miroslava Horáčková, Martina Putzová, Roman Šafránek, Marek Kollár, Milan Macek Jr