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Article

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease.

Neurology - 15 Jan 1999

Nance M A, Mathias-Hagen V, Breningstall G, Wick M J, McGlennen R C

Abstract excerpt

A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats-the largest CAG expansion reported within the huntingtin gene. This case emphasizes the need for communication between the diagnostic...

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Source

Identifiers

PMID: 9932964
DOI: 10.1212/wnl.52.2.392

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

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