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Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa
Huntington disease (HD) is an autosom 1 dominant, progressive neurodegenerative condition, which usually presents in mid-life. The disease-causing mutation was identified in 1993 and entails the expansion of an unstable repeat (CAG)n within exon 1 of the, HD gene (IT-15). A polymorphic (CCG)n repea...
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| Language: | English |
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Department of Medicine
2024
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