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[Juvenile form of Huntington's disease--diagnostic problems].

Medycyna wieku rozwojowego - 1 Jan 2000

Hoffman-Zacharska D, Zdzienicka E, Mierzewska H, Habib N, Kulczycki J, Zaremba J

Abstract excerpt

Variability of clinical manifestation is an important feature of Huntington's disease (HD). It is due to the high instability of CAG sequences within a coding region of IT15 gene. We present five pedigrees in which apart from the adult form of HD the juvenile form of the disease affected some of the patients--as a result of genetic anticipation. Molecular analysis confirmed the well known fact that anticipation,...

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PMID: 10910644

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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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