Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome


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Boyer O., Benoit G., Gribouval O., Nevo F., Pawtowski A., Bilge I., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.47, ss.445-452, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 47 Konu: 7
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1136/jmg.2009.076166
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.445-452

Özet

Background Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLC31) have been recently described in patients with early onset nephrotic syndrome (NS) and diffuse mesangial sclerosis (DMS). In addition, two cases of PLCE1 mutations associated with focal segmental glomerulosclerosis (FSGS) and later NS onset have been reported.