Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.

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Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.

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name

Functional characterization of ...... rritinaemia-cataract syndrome.

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Functional characterization of ...... rritinaemia-cataract syndrome.

@nl

type

Item

label

Functional characterization of ...... rritinaemia-cataract syndrome.

@en

Functional characterization of ...... rritinaemia-cataract syndrome.

@nl

prefLabel

Functional characterization of ...... rritinaemia-cataract syndrome.

@en

Functional characterization of ...... rritinaemia-cataract syndrome.

@nl

P1476

Functional characterization of ...... rritinaemia-cataract syndrome.

@en

P2093

Audrey Meunier

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Lucie Pécheux

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P2860

Mfold web server for nucleic acid folding and hybridization prediction

Sfold web server for statistical folding and rational design of nucleic acids

Translational regulation of mammalian and Drosophila citric acid cycle enzymes via iron-responsive elements

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

The molecular basis of genetic dominance

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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

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

Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.

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

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s41598-017-18326-6

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scholarly article

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10.1038/S41598-017-18326-6

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English

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2017-12-21T00:00:00Z

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29269865

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Gand

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5740175

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