The hepcidin gene promoter nc.-1010C > T; −582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00277-014-2160-7.pdf
Reference11 articles.
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2. Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A et al (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet 12:2241–7
3. Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C (2004) HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood 103:2835–40
4. Matthes T, Aguilar-Martinez P, Pizzi-Bosman L, Darbellay R, Rubbia-Brandt L, Giostra E et al (2004) Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′-UTR of the HAMP gene. Blood 104:2181–3
5. Roetto A, Daraio F, Porporato P, Caruso R, Cox TM, Cazzola M et al (2004) Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood 103:2407–9
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1. Serum Hepcidin Hormone Level and Its Genes Polymorphism;Genetic Variation;2021-05-19
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3. Hepcidin: SNP-Like Polymorphisms Present in Iron Metabolism and Clinical Complications of Iron Accumulation and Deficiency;Genetic Polymorphisms;2017-09-06
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