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Article

Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing.

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Mar 2011

Radvansky Jan, Ficek Andrej, Minarik Gabriel, Palffy Roland, Kadasi Ludevit

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is caused by expansion of the CTG trinucleotide repeat in the DMPK gene. Our study focuses on the effect of recently described unusual sequence interruptions inside the CTG tract on conventional polymerase chain reaction (PCR) and triplet repeat primed PCR (TP-PCR) amplifications, which are the methods now widely used in molecular testing for DM1. For molecular characterization of...

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Source

Identifiers

PMID: 21326039
DOI: 10.1097/PDM.0b013e3181efe290

Genes

DMPK

Provenance

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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Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing.PMID 21326039Read ↗

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