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Renal chloride channel, CLCN5, mutations in Dent's disease.
Cox JP, Yamamoto K, Christie PT, Wooding C, Feest T, Flinter FA, Goodyer PR, Leumann E, Neuhaus T, Reid C, Williams PF, Wrong O, Thakker RV. Cox JP, et al. Among authors: thakker rv. J Bone Miner Res. 1999 Sep;14(9):1536-42. doi: 10.1359/jbmr.1999.14.9.1536. J Bone Miner Res. 1999. PMID: 10469281 Free article.
GATA3 haplo-insufficiency causes human HDR syndrome.
Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. Van Esch H, et al. Among authors: thakker rv. Nature. 2000 Jul 27;406(6794):419-22. doi: 10.1038/35019088. Nature. 2000. PMID: 10935639
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
Christie PT, Curley A, Nesbit MA, Chapman C, Genet S, Harper PS, Keeling SL, Wilkie AO, Winter RM, Thakker RV. Christie PT, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2001 Jul;86(7):3233-6. doi: 10.1210/jcem.86.7.7688. J Clin Endocrinol Metab. 2001. PMID: 11443194
382 results