Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

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Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

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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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2017年学术文章

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2017年学术文章

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Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

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Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

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Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

@en

Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

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Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

@en

Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

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P1476

Somatic instability of the expanded GAA repeats in Friedreich's ataxia

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P2093

Arnulf H Koeppen

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Ashlee Long

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David R Lynch

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Jill S Napierala

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Lauren Hauser

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Urszula Polak

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P2860

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia

Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s Disease

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.

Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

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e0189990

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scholarly article

P356

10.1371/JOURNAL.PONE.0189990

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English

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P478

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Marek Napierala

P577

2017-12-19T00:00:00Z

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29261783

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P932

5736210

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