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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 of HD alleles of 37-39 repeats in collateral branches of families with de novo HD. All 10 descendants, including many...

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PMID: 9158152
DOI: 10.1093/hmg/6.5.775

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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