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Renal glucosuria due to SGLT2 mutations.
Kleta R, Stuart C, Gill FA, Gahl WA. Kleta R, et al. Among authors: stuart c. Mol Genet Metab. 2004 May;82(1):56-8. doi: 10.1016/j.ymgme.2004.01.018. Mol Genet Metab. 2004. PMID: 15110322
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A. Kleta R, et al. Among authors: stuart c. Nat Genet. 2004 Sep;36(9):999-1002. doi: 10.1038/ng1405. Epub 2004 Aug 1. Nat Genet. 2004. PMID: 15286787
443 results