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• W2313929507 abstract "There are a large number of glomerular diseases that may be responsible for a nephrotic syndrome, the most frequent in childhood being minimal change disease. In the past few years, the molecular genetic basis of several conditions that may cause a nephrotic syndrome have been identified. Denys-Drash syndrome and Frasier syndrome are related diseases caused by mutations in the WT1 gene. Familial forms of idiopathic nephrotic syndrome with focal and segmental glomerular sclerosis/hyalinosis have been identified with an autosomal dominant or recessive mode of inheritance and linkage analysis have allowed to localize several genes on chromosomes 1, 11 and 17. The gene responsible for the Finnish type congenital nephrotic syndrome has been identified. This gene, named NPHS1, codes for nephrin, which is located at the slit diaphragm of the glomerular podocytes and is thought to play an essential role in the normal glomerular filtration barrier." @default.
• W2313929507 created "2016-06-24" @default.
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• W2313929507 date "2000-04-01" @default.
• W2313929507 modified "2023-10-18" @default.
• W2313929507 title "Genetics of the nephrotic syndrome" @default.
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• W2313929507 doi "https://doi.org/10.1097/00008480-200004000-00008" @default.
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