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- Title
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.
- Authors
Merryweather-Clarke, Alison T.; Pointon, Jennifer J.; Shearman, Jeremy D.; Robson, Kathryn J.H.; Jouanolle, Anne Marie; Mosser, Annick; David, Véronique; Le Gall, Jean-Yves; Halsall, David J.; Elsey, Terence S.; Kelly, Alison; Cox, Timothy M.; Clare, Michael; Bomford, Adrian; Vandwalle, Jean Luc; Rochette, Jacques; Borot, Nicolas; Coppin, Hélène; Roth, Marie-Paule
- Abstract
Discusses the controversy regarding the results of a polymorphism in HFE in the binding region of a polymerase chain reaction primer used in the diagnosis of hereditary hemochromatosis. Re-evaluation of C282Y homozygotes; Prevalence of the 5569A allele; Frequency of false-positive HFE genotype determinations.
- Subjects
GENETIC polymorphisms; POLYMERASE chain reaction; HEMOCHROMATOSIS
- Publication
Nature Genetics, 1999, Vol 23, Issue 3, p271
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/15452