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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT. Hamilton AJ, et al. Among authors: hamilton shield jp. J Med Genet. 2014 Mar;51(3):165-9. doi: 10.1136/jmedgenet-2013-102066. Epub 2013 Nov 27. J Med Genet. 2014. PMID: 24285859 Free PMC article.
UK Renal Registry 17th Annual Report: Chapter 9 Clinical, Haematological and Biochemical Parameters in Patients Receiving Renal Replacement Therapy in Paediatric Centres in the UK in 2013: National and Centre-specific Analyses.
Hamilton AJ, Pruthi R, Maxwell H, Casula A, Braddon F, Inward C, Lewis M, O'Brien C, Stojanovic J, Tse Y, Sinha MD. Hamilton AJ, et al. Nephron. 2015;129 Suppl 1:209-22. doi: 10.1159/000370279. Epub 2015 Jan 22. Nephron. 2015. PMID: 25695813
UK Renal Registry 18th Annual Report: Chapter 10 Clinical, Haematological and Biochemical Parameters in Patients Receiving Renal Replacement Therapy in Paediatric Centres in the UK in 2014: National and Centre-specific Analyses.
Hamilton AJ, Braddon F, Casula A, Inward C, Lewis M, Mallett T, Maxwell H, O'Brien C, Tse Y, Sinha MD. Hamilton AJ, et al. Nephron. 2016;132 Suppl 1:237-52. doi: 10.1159/000444824. Epub 2016 Apr 19. Nephron. 2016. PMID: 27116019 Free article.
215 results