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Article

Standardization of PCR amplification for fragile X trinucleotide repeat measurements.

Clinical genetics - 1 Jan 2002

O'Connell C D, Atha D H, Jakupciak J P, Amos J A, Richie K l

Abstract excerpt

To provide the clinical diagnostics community with accurate protocols and measurements for the detection of genetic disorders, we have established a quantitative measurement program for trinucleotide repeats associated with human disease. In this study, we have focused on the triplet repeat associated with fragile X syndrome. Five cell lines obtained from the Coriell Cell Repository were analyzed after polymerase...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 11903349
DOI: 10.1034/j.1399-0004.2002.610103.x

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

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