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Page 1
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
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
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.
Detection of C282Y and H63D in the HFE gene.
Pointon JJ, Merryweather-Clarke AT, Carella M, Robson KJ. Pointon JJ, et al. Genet Test. 2000;4(2):115-20. doi: 10.1089/10906570050114803. Genet Test. 2000. PMID: 10953949 Review.
75 results