Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes

GÜRAN T., Akcay T., BEREKET A., Atay Z., Turan S., Haisch L., ...Daha Fazla

NEPHROLOGY DIALYSIS TRANSPLANTATION, cilt.27, sa.2, ss.667-673, 2012 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 2
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1093/ndt/gfr300
  • Dergi Adı: NEPHROLOGY DIALYSIS TRANSPLANTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.667-673
  • Anahtar Kelimeler: claudin-16, CLDN16, familial hypomagnesaemia, TRPM6, SECONDARY HYPOCALCEMIA, MAGNESIUM HOMEOSTASIS, NEPHROCALCINOSIS, HYPERCALCIURIA, PARACELLIN-1, DISORDERS
  • Marmara Üniversitesi Adresli: Evet

Özet

Recent identification and characterization of novel renal Mg2+ transporters and ion channels have greatly increased our understanding of the normal physiology of renal magnesium handling.