Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice

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Springer Publishing Company

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The Friedreich Ataxia GAA Triplet Repeat: Premutation and Normal Alleles

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Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia

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The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo , with a significant predilection for large contractions

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The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model

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