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Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a swiss family.

• Authors : Rüfer, Axel¹ ; Howell, Jeremy P.²; Lange, Alex P.²

• Source: European Journal of Haematology. Sep2011, Vol. 87 Issue 3, p274-278. 5p. 1 Color Photograph, 1 Diagram, 1 Chart, 1 Graph.

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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

Subjects: Diseases of the blood and blood-forming organs; RC633-647.5

• Source: Haematologica, Vol 98, Iss 4 (2013)

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Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene

Subjects: Adult; Cataract; Family Health

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Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a swiss family

• Authors : Alex P. Lange; Walter A. Wuillemin; Jeremy P. Howell

Subjects: Genetics; medicine.medical_specialty; Iron metabolism disorder

• Source: European Journal of Haematology. 87:274-278

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A novel deletion in the iron-response element of the L-ferritin gene, causing hyperferritinaemia cataract syndrome

• Authors : Garber, Ian; Pudek, Morris

Subjects: Clinical Biochemistry; General Medicine

• Source: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine ; volume 51, issue 6, page 710-713 ; ISSN 0004-5632 1758-1001

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Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a Swiss family

• Authors : Axel, Rüfer; Jeremy P, Howell; Alex P, Lange

Subjects: Adult; Diagnosis, Differential; Heterozygote

• Source: European journal of haematology. 87(3)

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Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family

• Authors : Vincenzo Petitti; Francesca Clementina Radio; Paola Grammatico ...

Subjects: 0301 basic medicine; Adult; Male

• Source: Ophthalmic genetics. 37(3)

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Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family.

• Authors : Cosentino, Ilaria¹ (AUTHOR); Zeri, Fabrizio² (AUTHOR) ; Swann, Peter G.^3,4 (AUTHOR)

• Source: Ophthalmic Genetics. Sep2016, Vol. 37 Issue 3, p318-322. 5p.

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A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G.

• Authors : Balta, Burhan¹ ; Erdoğan, Murat¹; Kiraz, Aslıhan¹

• Source: Turkish Journal of Hematology. 2019, Vol. 36 Issue 1, p25-28. 4p.

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Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family

Subjects: Cataract; hyperferritinemia-cataract syndrome; iron responsive element

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