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Article

Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne/Becker Muscular Dystrophy.

The journal of applied laboratory medicine - 4 May 2023

Buitrago Tatiana, García-Acero Mary, Guerra-Torres Mariana, Pineda Tatiana, Gámez Tatiana, Suárez-Obando Fernando, García-Robles Reggie, Ayala-Ramírez Paola

Abstract excerpt

BACKGROUND: The MLPA (multiplex ligation dependent probe amplification) technique is currently the test most widely used to detect mutations in the Duchenne/Becker muscular dystrophy (DMD) gene in the initial assessment. However, several studies have suggested that MLPA results require implementing other detection methods due to false duplication. Our aim was to evaluate variables that could alter the peak ratio...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 36790923
DOI: 10.1093/jalm/jfac136

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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