Recomendaciones para el diagnóstico de la hemocromatosis ...
Recomendaciones para el diagnóstico de la hemocromatosis ...
Recomendaciones para el diagnóstico de la hemocromatosis ...
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podría haber dobles heterozigotos entre los <strong>de</strong>scendientes, no se justifica <strong>el</strong> genotipado<br />
<strong>de</strong> todos <strong>el</strong>los <strong>de</strong>bido a <strong>la</strong> baja penetrancia <strong>de</strong> dicha mutación.<br />
9. BIBLIOGRAFÍA<br />
1. Altes A, Ruiz MA, Cast<strong>el</strong>l C, Roure E, Tresserras R. Iron <strong>de</strong>ficiency and iron<br />
overload in an adult popu<strong>la</strong>tion in Catalonia, Spain. Med Clin (Barc). 2004;123:131-<br />
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in Spain. Genet Test. 4,171-176.<br />
4. Altes A, Ruiz A, Barc<strong>el</strong>ó MJ, Remacha AF, Puig T, Maya AJ, Cast<strong>el</strong>l C, Amate<br />
JM, Saz Z, Baiget M. Prevalence of C282Y, H63D and S65C mutations of HFE gene in<br />
1146 newborns from a region of northern Spain. Gen Testing 2004;8:407-410.<br />
5. Societé française <strong>de</strong> biologie clinique, Societé française d’hematologie, Vernet M,<br />
Corberand J, David V, Dugnier Y, Frey J, Girau<strong>de</strong>t P et al. Algorithmes <strong>de</strong> prescrition<br />
recommandés pour le diagnostic d’un déficit et d’une surcharge en fer. Ann Biol. Clin<br />
2001;59(2):149-155.<br />
6. Beutler E, F<strong>el</strong>itti V, G<strong>el</strong>bart T, Ho N. The effect of HFE genotypes on<br />
measurements of iron overload in patients attending a health appraisal clinic. Ann Intern<br />
Med 2000;133 (5):329-337.<br />
7. Biehler-Chapuis C. Déspistage <strong>de</strong> l’hémochromatose génétique chez 3500<br />
donneurs <strong>de</strong> sang du Puy-<strong>de</strong>-Dôme [thèse]. Clermont-Ferrand: Université <strong>de</strong> Clermont-<br />
Ferrand I; 2002.<br />
Sociedad Españo<strong>la</strong> <strong>de</strong> Bioquímica Clínica y Patología Molecu<strong>la</strong>r<br />
Comité Científico<br />
Comisión <strong>de</strong> Genética Molecu<strong>la</strong>r<br />
Documento A, Fase 2, Versión 3 página 12
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