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Article

Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.

Expert review of molecular diagnostics - 1 Mar 2015

Rajan-Babu Indhu-Shree, Teo Clara R L, Lian Mulias, Lee Caroline G, Law Hai-Yang, Chong Samuel S

Abstract excerpt

AIM: Molecular diagnosis of fragile X syndrome demands assessment of fragile X mental retardation 1 (FMR1) CGG repeat size and methylation status, while predicting disease transmission risk requires determination of AGG interruption pattern. There is currently no single assay that provides all three categories of information. We describe a single-tube methylation-specific triplet-primed PCR assay for concurrently...

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Source

Identifiers

PMID: 25583300
DOI: 10.1586/14737159.2015.1001749

Genes

FMR1

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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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