Reduced penetrance of the Huntington's disease mutation.

doi:10.1093/hmg/6.5.775

Article

Reduced penetrance of the Huntington's disease mutation.

Human molecular genetics - 1 May 1997

McNeil S M, Novelletto A, Srinidhi J, Barnes G, Kornbluth I, Altherr M R, Wasmuth J J, Gusella J F, MacDonald M E, Myers R H

Abstract excerpt

Controversy persists concerning the significance of Huntington disease (HD) alleles in the 36-39 repeat range. Although some clinically affected persons have been documented with repeats in this range, elderly unaffected individuals have also been reported. We examined 10 paternal transmissions o...

Topics

Adult
Aged
Aged, 80 and over
Gene Frequency
Heterozygote
Humans
Huntington Disease
Male
Middle Aged
Mutation
Pedigree
Repetitive Sequences, Nucleic Acid
Sequence Analysis, DNA
Trinucleotide Repeats

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