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

• Authors: Muriel Giansily-Blaizot, Séverine Cunat, Grégory Moulis, Jean-François Schved, Patricia Aguilar-Martinez
• Journal: Haematologica (Haematologica) Vol. 98 Issue 4 Pg. e42-3 (Apr 2013) ISSN: 1592-8721 [Electronic] Italy
• PMID: 23300176 (Publication Type: Case Reports, Letter)

Chemical References

• 5' Untranslated Regions
• Apoferritins

Topics

• 5' Untranslated Regions (genetics)
• Apoferritins (genetics)
• Base Sequence
• Cataract (congenital, genetics)
• DNA Mutational Analysis
• Family Health
• Female
• Homozygote
• Humans
• Iron Metabolism Disorders (congenital, genetics)
• Male
• Middle Aged
• Mutation
• Pedigree
• Syndrome