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NewHJV Mutation in a Patient with Hyperferritinemia and H63D Homozygosity for theHFE Gene

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References

  1. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.Nature Genet. 1996;13:399–408.

    Article  PubMed  CAS  Google Scholar 

  2. Camaschella C, Roetto A, Calì A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.Nature Genet. 2000;25:14–15.

    Article  PubMed  CAS  Google Scholar 

  3. Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11 A3 is associated with autosomal dominant hemochromatosis.Nature Genet. 2001;28:213–214.

    Article  PubMed  CAS  Google Scholar 

  4. Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.Nat Genet. 2003;33:21–22.

    Article  PubMed  CAS  Google Scholar 

  5. Lee PL, Beutler E, Rao SV, Barton JC. Genetic abnormalities and juvenile hemochromatosis: mutations of theHJV gene encoding hemojuvelin.Blood. 2004;103:4669–4671.

    Article  PubMed  CAS  Google Scholar 

  6. de Diego C, Opazo S, Murga MJ, Martínez-Castro P. H63D homozygotes with hyperferritinaemia: is this genotype, the primary cause of iron overload?Eur J Haematol. 2007;78:66–71.

    Article  PubMed  CAS  Google Scholar 

  7. Aguilar-Martinez P, Bismuth M, Picot MC, et al. Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?Gut. 2001;48:836–842.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  8. Gandon Y, Olivié D, Guyader D, et al. Non-invasive assessment of hepatic iron stores by MRI.Lancet. 2004;363:357–362.

    Article  PubMed  CAS  Google Scholar 

  9. Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations inHAMP andHFE results in different types of haemochromatosis.Hum Molec Genet. 2003;12:2241–2247.

    Article  PubMed  CAS  Google Scholar 

  10. Le Gac G, Scotet V, Ka C, et al. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.Hum Mol Genet. 2004;13:1913–1918.

    Article  PubMed  Google Scholar 

  11. Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C.HAMP as a modifier gene that increases the phenotypic expression of theHFE pC282Y homozygous genotype. Blood.2004;103:2835–2840.

    Article  PubMed  CAS  Google Scholar 

  12. Aguilar-Martínez P, Lok CY, Cunat S, Cadet E, Robson K, Rochette J. Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.Haematologica. 2007;92:421–422.

    Article  PubMed  Google Scholar 

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Correspondence to Carles de Diego.

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de Diego, C., Opazo, S., Sánchez-Castaño, Á. et al. NewHJV Mutation in a Patient with Hyperferritinemia and H63D Homozygosity for theHFE Gene. Int J Hematol 86, 379–380 (2007). https://doi.org/10.1532/IJH97.E0748

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  • DOI: https://doi.org/10.1532/IJH97.E0748

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