CLDN16 Genotype Predicts Renal Decline in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder caused by CLDN16 mutations. CLDN16 encodes the renal tight junction protein claudin-16, which is important for the paracellular reabsorption of calcium and magnesium in the thick a...

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Détails bibliographiques
Auteurs principaux: Konrad, Martin, Hou, Jianghui, Weber, Stefanie, Dötsch, Jörg, Kari, Jameela A., Seeman, Tomas, Kuwertz-Bröking, Eberhard, Peco-Antic, Amira, Tasic, Velibor, Dittrich, Katalin, Alshaya, Hammad O., von Vigier, Rodo O., Gallati, Sabina, Goodenough, Daniel A., Schaller, André
Format: Artigo
Langue:Inglês
Publié: American Society of Nephrology 2008
Sujets:
Clinical Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2391030/
https://ncbi.nlm.nih.gov/pubmed/18003771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2007060709
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