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Recent advances in understanding haemochromatosis: a transition state.
Robson KJ, Merryweather-Clarke AT, Cadet E, Viprakasit V, Zaahl MG, Pointon JJ, Weatherall DJ, Rochette J. Robson KJ, et al. Among authors: pointon jj. J Med Genet. 2004 Oct;41(10):721-30. doi: 10.1136/jmg.2004.020644. J Med Genet. 2004. PMID: 15466004 Free PMC article. Review.
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, McHugh PJ, Chapman RW, Pointon JJ, Wimhurst VL, Livesey KJ, Tanphaichitr V, Rochette J, Robson KJ. Merryweather-Clarke AT, et al. Among authors: pointon jj. Hum Mol Genet. 2003 Sep 1;12(17):2241-7. doi: 10.1093/hmg/ddg225. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915468
Haemochromatosis: a gene at last?
Robson KJ, Shearman JD, Merryweather-Clarke AT, Pointon JJ, Rosenberg WM, Walker AP, Dooley JS, Bomford A, Raha-Chowdhury R, Worwood M. Robson KJ, et al. Among authors: pointon jj. J Med Genet. 1997 Feb;34(2):148-51. doi: 10.1136/jmg.34.2.148. J Med Genet. 1997. PMID: 9039993 Free PMC article. No abstract available.
Global prevalence of putative haemochromatosis mutations.
Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Merryweather-Clarke AT, et al. Among authors: pointon jj. J Med Genet. 1997 Apr;34(4):275-8. doi: 10.1136/jmg.34.4.275. J Med Genet. 1997. PMID: 9138148 Free PMC article.
Geography of HFE C282Y and H63D mutations.
Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, Rochette J, Robson KJ. Merryweather-Clarke AT, et al. Among authors: pointon jj. Genet Test. 2000;4(2):183-98. doi: 10.1089/10906570050114902. Genet Test. 2000. PMID: 10953959
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
Livesey KJ, Wimhurst VL, Carter K, Worwood M, Cadet E, Rochette J, Roberts AG, Pointon JJ, Merryweather-Clarke AT, Bassett ML, Jouanolle AM, Mosser A, David V, Poulton J, Robson KJ. Livesey KJ, et al. Among authors: pointon jj. J Med Genet. 2004 Jan;41(1):6-10. doi: 10.1136/jmg.2003.008805. J Med Genet. 2004. PMID: 14729817 Free PMC article.
75 results