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PubMed · 7805257

Unstable triplet repeat diseases.

D G Monckton·C T Caskey
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Abstract

Seven inherited human disorders are now associated with the intragenic expansion of triplet repeat DNA sequences. These repeats demonstrate extreme instability in both germline and somatic tissue, accounting for the unusual genetic inheritance patterns and symptom variability associated with these diseases.

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Brain DiseasesFragile X SyndromeHumansHuntington DiseaseMuscular AtrophyMyotonic DystrophyNeuromuscular DiseasesRepetitive Sequences, Nucleic AcidSex Chromosome AberrationsSpinocerebellar DegenerationsJournal ArticleResearch Support, Non-U.S. Gov'tReview

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D G Monckton, C T Caskey. 1995-01-15. Unstable triplet repeat diseases.. https://doi.org/10.1161/01.cir.91.2.513

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