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Article

Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome.

Journal of genetics and genomics = Yi chuan xue bao - 1 Apr 2009

Shen Yiping, Wu Bai-Lin

Abstract excerpt

Copy number variants (CNVs) are pervasive in the human genome and are responsible for many Mendelian diseases and genomic disorders. The detection of CNVs is an essential element of a complete mutation screening strategy. Many techniques have been developed for gene dosage testing. Multiplex ligation-dependent probe amplification (MLPA) is a robust, easy and flexible technique that can detect both deletions and...

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PMID: 19376486
DOI: 10.1016/S1673-8527(08)60113-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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