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Article

Rapid detection of aneuploidy (trisomy 21) by allele quantification combined with melting curves analysis of single-nucleotide polymorphism loci.

Clinical chemistry - 1 Jul 2003

Pont-Kingdon Genevieve, Lyon Elaine

Abstract excerpt

BACKGROUND: Molecular approaches for the detection of chromosomal abnormalities will allow the development of rapid, cost-effective screening strategies. We present here a molecular alternative for the detection of aneuploidies and, more specifically, trisomy 21. METHODS: We used the quantitative value of melting curve analysis of heterozygous genetic loci to establish a relative allelic count. The two alleles of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 12816905
DOI: 10.1373/49.7.1087

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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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