Juvenile hemochromatosis due to homozygosity for the G320V mutation in theHJVgene with fatal outcome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01261.x/fullpdf
Reference9 articles.
1. The molecular genetics of haemochromatosis;Le Gac;Eur J Hum Genet,2005
2. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis;Papanikolaou;Nat Genet,2004
3. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis;Roetto;Nat Genet,2003
4. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype;Le Gac;Hum Mol Genet,2004
5. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype;Jacolot;Blood,2004
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1. Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review;Orphanet Journal of Rare Diseases;2019-07-08
2. Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease;Blood;2018-07-05
3. An unexpected cause of liver cirrhosis and cardiomyopathy in a young man;Acta Clinica Belgica;2017-12-04
4. Hepcidin: SNP-Like Polymorphisms Present in Iron Metabolism and Clinical Complications of Iron Accumulation and Deficiency;Genetic Polymorphisms;2017-09-06
5. Enfermedades por sobrecarga de hierro en los niños;EMC - Pediatría;2013-06
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