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Article

Evaluation of IP-RP-HPLC for length determination of the trinucleotide repeat fragments in Huntington's disease.

Journal of chromatographic science - 1 Jan 2010

Skrzypczak Marzena, Heinritz Wolfram, Schulz Anna M, Mierzejewski Marek, Froster Ursula G

Abstract excerpt

Expansion of an unstable trinucleotide (CAG)(n) repeat region within exon 1 of the gene IT15 causes autosomal, dominantly inherited Huntington's disease (HD). The number of CAG-repeats varies from 6 to 35 in normal individuals, whereas in affected patients the expanded allele contains 40 or more CAG-repeats. Thus, exact determination of both alleles of the gene (normal and expanded) on the molecular level is of...

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Identifiers

PMID: 20056037
DOI: 10.1093/chromsci/48.1.55

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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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