Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis

Compound heterozygous and homozygous (comp/hom) mutations in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium (Na(+))-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosph...

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Détails bibliographiques
Auteurs principaux: Dasgupta, Debayan, Wee, Mark J., Reyes, Monica, Li, Yuwen, Simm, Peter J., Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew, Lazier, Joanna, Gessner, Michaela, Chrysis, Dionisios, Tuchman, Shamir, Baluarte, H. Jorge, Levine, Michael A., Tiosano, Dov, Insogna, Karl, Hanley, David A., Carpenter, Thomas O., Ichikawa, Shoji, Hoppe, Bernd, Konrad, Martin, Sävendahl, Lars, Munns, Craig F., Lee, Hang, Jüppner, Harald, Bergwitz, Clemens
Format: Artigo
Langue:Inglês
Publié: American Society of Nephrology 2014
Sujets:
Clinical Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4178443/
https://ncbi.nlm.nih.gov/pubmed/24700880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013101085
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