Hemocromatosis hereditaria. Powell L.W., Isselbacher omatosis Pardo A., Salido E., Quintero omatosis hereditaria: implicaciones. Abstract. TAPIAS M, Mónica and IDROVO C, Victor. Hereditay hemochromatosis. Rev Col Gastroenterol [online]. , vol, n.4, pp ISSN Hemocromatosis hereditaria: Presentación de 2 casos y revisión de la literatura. Rev Col Gastroenterol [online]. , vol, n.2, pp ISSN

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Immunogenetics, 5pp. CY and H63D mutation frequencies in a population from central Spain. Hepatology, 28pp.

How to cite this article. Gastroenterology,pp. J Intern Med,pp. Previous article Next article. Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin.

Hemocromatosis hereditaria

End-stage liver disease hemodromatosis hemochromatosis associated with elevated hepatic iron index. Rev Col Gastroenterol [online]. Hospital Universitario de Canarias.

Hereditary hemochromatosis is a disorder related to iron metabolism. Services on Demand Article. Se excluyeron los casos detectados en familiares.

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Eur J Hum Genet, 9pp. Mutation analysis in hereditary hemochromatosis. Nat Genet, 13pp. HFE mutations in patients with hereditary haemochromatosis in Sweden.

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HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. In Spain, the available data are contradictory and limited to small series in specific regions. J Hepatol, 27pp. Prevalence of the CysTyr and His63Asp gene mutations in Spanish patients with hemocrokatosis hemocromatosis and in controls. Full text is only aviable in PDF.

Dis Markers, 17pp. Mutation analysis of the transferring receptor-2 gene in patients with iron overload.

Hemocromatosis hereditaria –

Rev Esp Enf Dig, 93pp. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. The objective of this study is to determine the prevalence of the 2 main HFE gene mutations in a large series of unrelated Spanish patients with HH from different geographical origins. Blood Cells Mol Dis, 25pp. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. The HFE, is located on chromosome 6, and may have three types of mutations of this gene, however hemocromatoiss most common mutation is CY.


Print Send herecitaria a friend Export reference Mendeley Statistics. Clin Genet, 58pp. Transferrin receptor-2 gene and non-CY homozygous heerditaria with hemochromatosis.

Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene SLC11A3. Results A total of Si continua navegando, consideramos que acepta su uso.

The development of new diagnostic techniques, such as genetic studies for HFE mutation, has improved early detection that permits prompt therapy, preventing morbidity and mortality in healthy carriers. Services hereditarix Demand Article. Frequency analysis and allele map in favor of the celtic origin of the CY mutation of hemochromatosis.

Hemocromatosis – Síntomas y causas – Mayo Clinic

Blood Cells Mol Dis, 72pp. You can change the settings or obtain more information by clicking here. Patients and Method The criteria for HH diagnosis were: Ann Intern Med,pp.