[Huntington's disease: molecular basis and detection of carriers].

Abstract excerpt

Huntington's disease (HD) results from extensive damage to the nerve cells of the brain cortex and basal ganglia. The gene associated with these changes was mapped in 1983 to the short arm of chromosome 4, at 4p16.3. A decade later it was cloned and the mutation was identified as an increase in the number of CAG repeats in the coding sequence. In the normal gene there are up to 34 repeats but in HD there are more...

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