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Article

A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.

Clinical epigenetics - 1 Jan 2016

Hadd Andrew G, Filipovic-Sadic Stela, Zhou Lili, Williams Arianna, Latham Gary J, Berry-Kravis Elizabeth, Hall Deborah A

Abstract excerpt

BACKGROUND: Epigenetic modifications of the fragile X mental retardation 1 (FMR1) gene locus may impact the risk for reproductive and neurological disorders associated with expanded trinucleotide repeats and methylation status in the 5' untranslated region. FMR1 methylation is commonly assessed by Southern blot (SB) analysis, yet this method suffers a cumbersome workflow and relatively poor sizing resolution...

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Source

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Identifiers

PMID: 27980694
DOI: 10.1186/s13148-016-0280-8
PMCID: PMC5131543

Genes

FMR1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.PMID 27980694Read ↗

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