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Article

False-negative tests in Huntington's disease: A new variant within primer hybridization site.

European journal of neurology - 1 Jun 2021

Dulski Jaroslaw, Sulek Anna, Krygier Magdalena, Radziwonik Wiktoria, Slawek Jaroslaw

Abstract excerpt

BACKGROUND: Establishing the diagnosis of Huntington's disease (HD) involves molecular genetic testing and estimation of the number of CAG repeats. MATERIAL AND METHODS: We report a 42-year-old patient with clinical phenotype suggestive of HD, who was repeatedly negative on genetic testing for HD at a reference laboratory. He had positive history of similar symptoms in his father, but not in other family members....

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PMID: 33576024
DOI: 10.1111/ene.14772

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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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