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Article

Performance evaluation of two methods using commercially available reagents for PCR-based detection of FMR1 mutation.

The Journal of molecular diagnostics : JMD - 1 Sept 2012

Juusola Jane S, Anderson Paula, Sabato Fernanda, Wilkinson David S, Pandya Arti, Ferreira-Gonzalez Andrea

Abstract excerpt

The current workflow for clinical Fragile X testing is time consuming and labor intensive. Recently developed PCR-based methods simplify workflow, amplify full mutation alleles, and improve sensitivity for detecting low-level mosaicism. We evaluated the performance characteristics and workflow of two methods using commercially available reagents for determining FMR1 mutation status. We also tested each method's...

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Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Reagent Kits, Diagnostic

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Source

Identifiers

PMID: 22765921
DOI: 10.1016/j.jmoldx.2012.03.005

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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