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Article

A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay.

Nucleic acids research - 1 Dec 2008

Duffy Kelly J, Littrell Jack, Locke Adam, Sherman Stephanie L, Olivier Michael

Abstract excerpt

Individuals with trisomy 21 display complex phenotypes with differing degrees of severity. Numerous reliable methods have been established to diagnose the initial trisomy in these patients, but the identification and characterization of the genetic basis of the phenotypic variation in individuals...

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Identifiers

PMID: 18940863
DOI: 10.1093/nar/gkn736
PMCID: PMC2602776

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18940863-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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