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Article

Extra alleles in FMR1 triple-primed PCR: artifact, aneuploidy, or somatic mosaicism?

The Journal of molecular diagnostics : JMD - 1 Nov 2014

Wakeling Erin N, Nahhas Fatimah A, Feldman Gerald L

Abstract excerpt

Triple-primed PCR assays have become the preferred fragile X syndrome testing method. Using a commercially available assay, we detected a reproducible extra peak(s) in 0.5% of 13,161 clinical samples. The objectives of this study were to determine the cause of these extra peaks; to identify wheth...

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Source

Identifiers

PMID: 25307758
DOI: 10.1016/j.jmoldx.2014.06.006

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25307758-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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