Molecular analysis and clinical correlations of the Huntington's disease mutation.

doi:10.1016/0140-6736(93)92002-b

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Article

Molecular analysis and clinical correlations of the Huntington's disease mutation.

Lancet (London, England) - 16 Oct 1993

MacMillan J C, Snell R G, Tyler A, Houlihan G D, Fenton I, Cheadle J P, Lazarou L P, Shaw D J, Harper P S

Abstract excerpt

The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene (IT15) on chromosome 4. We have investigated the relation of the phenotype of HD to this molecular defect and assessed the feasibility of HD mu...

Topics

Adult
Age Factors
Alleles
Base Sequence
Female
Humans
Huntington Disease
Male
Molecular Biology
Molecular Sequence Data
Phenotype

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