Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.

@article{Karle2002NovelMI,
  title={Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.},
  author={Stephanie M. Karle and Barbara Uetz and Vera Ronner and Lisa Glaeser and Friedhelm Hildebrandt and Arno Fuchshuber},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2002},
  volume={13 2},
  pages={388-93}
}
Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the heterogeneous group of familial nephrotic syndrome and represents a frequent cause of end-stage renal disease in childhood. This kidney disorder is characterized by early onset of proteinuria, progression to end-stage renal disease, and histologic findings of focal segmental glomerulosclerosis, minimal change nephrotic syndrome, or both. A causative gene, NPHS2, has been mapped to chromosome 1q25-q31 and was… CONTINUE READING
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