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Article

Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome.

Genetic testing and molecular biomarkers - 1 Apr 2010

Saunders Carol J, Friez Michael J, Patterson Melanie, Nzabi Masha, Zhao Weiwei, Bi Chengpeng

Abstract excerpt

Although few examples are formally documented, all polymerase chain reaction-based testing is theoretically vulnerable to allele drop-out (ADO), the failure to amplify one of the two alleles present in a cell. In a clinical setting, this can lead to false positive or negative diagnosis. We invest...

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Source

Identifiers

PMID: 20384458
DOI: 10.1089/gtmb.2009.0178

Genes

ADO
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20384458-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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