Article
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Sept 2010
Schoeb Dominik S, Chernin Gil, Heeringa Saskia F, Matejas Verena, Held Susanne, Vega-Warner Virginia, Bockenhauer Detlef, Vlangos Christopher N, Moorani Khemchand N, Neuhaus Thomas J, Kari Jameela A, MacDonald James, Saisawat Pawaree, Ashraf Shazia, Ovunc Bugsu, Zenker Martin, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND: Recessive mutations in the NPHS1 gene encoding nephrin account for approximately 40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90 days of life. Currently, more than 119 different mutations of NPHS1 have been published affecting most exons. METHODS: We here performed mutational analysis of NPHS1 in a worldwide...
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