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Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
Ferrè S, de Baaij JH, Ferreira P, Germann R, de Klerk JB, Lavrijsen M, van Zeeland F, Venselaar H, Kluijtmans LA, Hoenderop JG, Bindels RJ. Ferrè S, et al. J Am Soc Nephrol. 2014 Mar;25(3):574-86. doi: 10.1681/ASN.2013040337. Epub 2013 Nov 7. J Am Soc Nephrol. 2014. PMID: 24204001 Free PMC article.
328 results