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Article

Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

International journal of molecular sciences - 1 Jan 2012

Stuppia Liborio, Antonucci Ivana, Palka Giandomenico, Gatta Valentina

Abstract excerpt

Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed technique able to evidence variations in the copy number of several human genes. Due to this ability, MLPA can be used in the molecular diagnosis of several genetic diseases whose pathogenesis is related to the...

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Identifiers

PMID: 22489151
DOI: 10.3390/ijms13033245
PMCID: PMC3317712

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22489151-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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