Article
NUP107 mutations in children with steroid-resistant nephrotic syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jun 2017
Park Eujin, Ahn Yo Han, Kang Hee Gyung, Miyake Noriko, Tsukaguchi Hiroyasu, Cheong Hae Il
Abstract excerpt
BACKGROUND: NUP107 is a novel gene associated with autosomal recessive steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis (FSGS) in children. The frequency of NUP107 mutations in children with SR-FSGS remains unknown. METHODS: Nine families with two siblings affected by childhood-onset SRNS or proteinuria were recruited. FSGS was confirmed by a kidney biopsy in at least one...
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