Jávorszky, Eszter; Moriniere V; Kerti, Andrea; Balogh, Eszter; Piko H; Saunier S; Karcagi V; Antignac C; Tory, Kálmán
(2017)
BACKGROUND: Nephronophthisis, an autosomal recessive nephropathy, is responsible for 10% of childhood chronic renal failure. The deletion of its major gene, NPHP1, with a minor allele frequency of 0.24% in the general ...