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Your search keyword '"Iron Metabolism Disorders genetics"' showing total 5 results
Start Over Descriptor "Iron Metabolism Disorders genetics" Journal haematologica
5 results on '"Iron Metabolism Disorders genetics"'

1. Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.

Author

Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, and Aguilar-Martinez P

Subjects
Base Sequence, Cataract congenital, DNA Mutational Analysis, Family Health, Female, Homozygote, Humans, Iron Metabolism Disorders congenital, Male, Middle Aged, Pedigree, Syndrome, 5' Untranslated Regions genetics, Apoferritins genetics, Cataract genetics, Iron Metabolism Disorders genetics, Mutation
Published
2013
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2. Prevalence of hereditary hyperferritinemia-cataract syndrome in blood donors and patients with cataract.

Author

Bozzini C, Galbiati S, Tinazzi E, Aldigeri R, De Matteis G, and Girelli D

Subjects
Adolescent, Adult, Aged, Blood Donors, Cataract etiology, Eye Diseases, Hereditary epidemiology, Ferritins blood, Humans, Iron Metabolism Disorders epidemiology, Iron Metabolism Disorders genetics, Male, Mass Screening, Middle Aged, Mutation, Prevalence, Syndrome, Cataract epidemiology, Cataract genetics, Ferritins genetics
Published
2003

3. HFE, iron homeostasis and genetic hemochromatosis.

Author

Cazzola M

Subjects
Genes, MHC Class I, Hemochromatosis Protein, Humans, Iron Metabolism Disorders genetics, Iron-Regulatory Proteins, Iron-Sulfur Proteins genetics, Mutation, RNA, Messenger genetics, RNA-Binding Proteins genetics, Receptors, Transferrin blood, Ferritins blood, HLA Antigens genetics, Hemochromatosis genetics, Histocompatibility Antigens Class I genetics, Membrane Proteins
Published
2000

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