Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Human Molecular Genetics

• Publication date

  1999-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/8.13.2425PMID 10556290
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

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  1998cited by this paper
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  1998cited by this paper
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  1998cited by this paper
• The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.

  1998cited by this paper
• A mild case of Friedreich ataxia: Lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism

  1998cited by this paper
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  1998cited by this paper
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  1998cited by this paper
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  1998cited by this paper
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  1996cited by this paper
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  1996cited by this paper
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  2017cites this paper
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  2017cites this paper
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  2015cites this paper
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  2014cites this paper
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  2014cites this paper
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  2013cites this paper
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  2013cites this paper
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  2011influential citation
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  2006cites this paper
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