Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome.

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Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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Ferritin light chain gene muta ...... erritinemia-cataract syndrome.

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Ferritin light chain gene muta ...... erritinemia-cataract syndrome.

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Item

label

Ferritin light chain gene muta ...... erritinemia-cataract syndrome.

@en

Ferritin light chain gene muta ...... erritinemia-cataract syndrome.

@nl

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Ferritin light chain gene muta ...... erritinemia-cataract syndrome.

@en

Ferritin light chain gene muta ...... erritinemia-cataract syndrome.

@nl

P1476

Ferritin light chain gene muta ...... erritinemia-cataract syndrome.

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Claudia Mac Donald Bley Nascimento

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Flavia Pereira de Carvalho

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Joyce Esteves Hyppolito

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Nelson Hamerschlak

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Paulo Vidal Campregher

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Roberta Cardoso Petroni

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Rúbia Anita Ferraz Santana

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Susana Elaine Alves da Rosa

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P2860

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

Hyperferritinaemia without iron overload: pathogenic and therapeutic implications.

Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.

The role of magnetic resonance imaging-T2* in the evaluation of iron overload early in hereditary hemochromatosis. A cross-sectional study with 159 patients.

Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family.

Hereditary Hyperferritinemia-Cataract Syndrome

Scanning mutations of the 5'UTR regulatory sequence of l-ferritin by denaturing high-performance liquid chromatography: identification of new mutations

Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA

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492-495

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scholarly article

case report

P356

10.1590/S1679-45082017RC4006

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P433

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P478

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P577

2017-07-24T00:00:00Z

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P698

28746593

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P932

5875167

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