Unstable trinucleotide repeats and the diagnosis of neurodegenerative disease

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11 Scopus citations


Human genes containing unstable triplet repeats are associated with several neuropsychiatric diseases. These diseases all show a marked variation in clinical symptoms and genetic anticipation. The molecular understanding of these diseases provides the diagnostic laboratory with the capability to test directly whether an individual's DNA contains the disease-causing mutation, either as a confirmation of a clinical diagnosis or presymptomatically.

Original languageEnglish (US)
Pages (from-to)598-601
Number of pages4
JournalHuman pathology
Issue number6
StatePublished - Jun 1994


  • diagnostics
  • polymerase chain reaction
  • triplet repeats


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