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., ...More

NEPHROLOGY DIALYSIS TRANSPLANTATION, vol.27, no.2, pp.667-673, 2012 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 2
  • Publication Date: 2012
  • Doi Number: 10.1093/ndt/gfr300
  • Journal Name: NEPHROLOGY DIALYSIS TRANSPLANTATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.667-673
  • Keywords: claudin-16, CLDN16, familial hypomagnesaemia, TRPM6, SECONDARY HYPOCALCEMIA, MAGNESIUM HOMEOSTASIS, NEPHROCALCINOSIS, HYPERCALCIURIA, PARACELLIN-1, DISORDERS
  • Marmara University Affiliated: Yes

Abstract

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.