Article
Mutation analysis in patients with possible but apparently sporadic Huntington's disease.
Lancet (London, England) - 10 Sept 1994
Davis M B, Bateman D, Quinn N P, Marsden C D, Harding A E
Abstract excerpt
Until the advent of mutation analysis it was impossible to make a certain diagnosis of Huntington's disease (HD) in the absence of a positive family history, and sporadic cases of possible HD presented a substantial diagnostic dilemma. We have looked for the characteristic expanded trinucleotide (CAG) repeat sequence in the HD gene in 44 patients with probable or possible HD who did not have similarly affected...
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