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- W163148908 abstract "Huntington's disease (HD) is a progressive neurodegenerative disorder characterized by motor disturbance, cognitive loss, and psychiatric manifestations. It is inherited in an autosomal dominant fashion. The genetic defect causing HD was assigned to chromosome 4 in 1983 using polymorphic DNA markers in humans. Thereafter, a location cloning approach was pursued to isolate and characterize the HD gene. Recently, the Huntington's disease collaborative research group has isolated a new gene, IT 15, in 4p 16.3. IT 15 contains a polymorphic trinucleotide repeat that is expanded and unstable on HD chromosomes. A (CAG)n repeat longer than the normal range was observed on HD chromosomes from disease families. The (CAG)n repeat appears to be located within the coding sequence of a predicted 348 kd protein that is unrelated to any known gene." @default.
- W163148908 created "2016-06-24" @default.
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- W163148908 date "1993-09-01" @default.
- W163148908 modified "2023-09-23" @default.
- W163148908 title "[Huntington's disease--advances in gene mapping]." @default.
- W163148908 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8411732" @default.
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