Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome

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Heeringa S. F., Vlangos C. N., Chernin G., Hinkes B., Gbadegesin R., Liu J., ...Daha Fazla

NEPHROLOGY DIALYSIS TRANSPLANTATION, cilt.23, sa.11, ss.3527-3533, 2008 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 11
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1093/ndt/gfn271
  • Dergi Adı: NEPHROLOGY DIALYSIS TRANSPLANTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.3527-3533
  • Anahtar Kelimeler: CNS, novel mutations, NPHS1, SLIT DIAPHRAGM, NEPHRIN, GENE, CHILDHOOD, PROTEIN
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background. Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of life. CNS of the Finnish-type (CNF) features a rather specific renal histology and is caused by recessive mutations in the NPHS1 gene encoding nephrin, a major structural protein of the glomerular slit-diaphragm. So far, more than 80 different mutations of NPHS1 causing CNF have been published.