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, sa.7, ss.445-452, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 7
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1136/jmg.2009.076166
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.445-452
  • Kocaeli Üniversitesi Adresli: Evet

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.