Identification Of The Mutations Associated With Hereditary Hyperferritinemia Cataract Syndrome And Hemochromatosis In A Brazilian Family

dc.creatorMeneses F.G.A.
dc.creatorSchnabel B.
dc.creatorSilva I.D.C.G.
dc.creatorAlberto F.L.
dc.creatorToma L.
dc.creatorNader H.B.
dc.creatorLopes C.C.
dc.date2011
dc.date2015-06-30T20:36:20Z
dc.date2015-11-26T14:52:00Z
dc.date2015-06-30T20:36:20Z
dc.date2015-11-26T14:52:00Z
dc.date.accessioned2018-03-28T22:03:55Z
dc.date.available2018-03-28T22:03:55Z
dc.identifier
dc.identifierClinical Genetics. , v. 79, n. 2, p. 189 - 192, 2011.
dc.identifier99163
dc.identifier10.1111/j.1399-0004.2010.01517.x
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-78650860668&partnerID=40&md5=c8a8e8bfbd2a31b2a8d656b87bdf1ced
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/108595
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/108595
dc.identifier2-s2.0-78650860668
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1254685
dc.description[No abstract available]
dc.description79
dc.description2
dc.description189
dc.description192
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dc.descriptionGirelli, D., Olivieri, O., De Franceschi, L., A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract. (1995) Br J Haematol, 90, pp. 931-934
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dc.descriptionLadero, J.M., Hiperferritinemia hereditaria y sobrecarga férrica: no son sinónimos. (2006) Med Clin (Barc), 127, pp. 53-54
dc.descriptionGarcía-Erce, J.A., Cortés, T., Cremonesi, L., Hiperferritinemia familiar y cataratas congénitas asociadas a mutación del gen HFE. Dos nuevas familias españolas y una nueva mutación (A37T: "Zaragoza"). (2006) Med Clin (Barc), 127, pp. 55-58
dc.descriptionPapanikolaou, G., Chandrinou, H., Bouzas, E., Hereditary hyperferritinemia cataract syndrome in three unrelated families of Western Greek origin caused by the C39>G mutation of L-ferritin IRE. (2006) Blood Cell Mol Dis, 36, pp. 33-40
dc.descriptionVanita, V., Hejtmancik, J.F., Hennies, H.C., Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. (2006) Mol Vis, 12, pp. 93-99
dc.descriptionRuedaa, A.C., Ruanob, M.L.F., Síndrome hereditario de hiperferritinemia y cataratas en una familia española con la mutación A40G (París) en el gen de la L-ferritina (FTL) asociada a la mutación H63D en el gen HFE. (2007) Med Clin (Barc), 129, pp. 414-417
dc.descriptionBeutler, E., Gelbart, T., West, C., Mutation analysis in hereditary hemochromatosis. (1996) Blood Cell Mol Dis, 22, pp. 187-194
dc.descriptionBarton, J.C., Shih, W.W.H., Sawada-Hirai, R., Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. (1997) Blood Cell Mol Dis, 23, pp. 135-145
dc.descriptionAdams, P.C., Reboussin, D.M., Barton, J.C., Hemochromatosis and iron-overload screening in a racially diverse population. (2005) N Engl J Med, 352, pp. 1769-1778
dc.descriptionLachlan, K.L., Temple, I.K., Mumford, A.D., Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome. (2004) Eur J Hum Genet, 12, pp. 790-796
dc.descriptionGirelli, D., Corrocher, R., Bisceglia, L., Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron responsive element of ferritin L-subunit gene (the "Verona mutation"). (1995) Blood, 86, pp. 4050-4053
dc.languageen
dc.publisher
dc.relationClinical Genetics
dc.rightsfechado
dc.sourceScopus
dc.titleIdentification Of The Mutations Associated With Hereditary Hyperferritinemia Cataract Syndrome And Hemochromatosis In A Brazilian Family
dc.typeCarta


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