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

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A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.

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

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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Hyperferritinemia-cataract syn ...... rvations in an Italian family.

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Hyperferritinemia-cataract syn ...... rvations in an Italian family.

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Hyperferritinemia-cataract syn ...... rvations in an Italian family.

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Hyperferritinemia-cataract syn ...... rvations in an Italian family.

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Hyperferritinemia-cataract syn ...... rvations in an Italian family.

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Hyperferritinemia-cataract syn ...... rvations in an Italian family.

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P1476

Hyperferritinemia-cataract syn ...... rvations in an Italian family.

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Francesca Clementina Radio

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Ilaria Cosentino

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Paola Grammatico

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Paolo Palumbo

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Peter G Swann

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Silvia Majore

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Vincenzo Petitti

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P2860

Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

Combinatorial mRNA regulation: iron regulatory proteins and iso-iron-responsive elements (Iso-IREs).

The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin

The functional duality of iron regulatory protein 1.

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.

Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.

A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.

EASL clinical practice guidelines for HFE hemochromatosis.

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318-322

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scholarly article

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10.3109/13816810.2015.1059460

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Fabrizio Zeri

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2016-02-05T00:00:00Z

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26849797

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

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P2860

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

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