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Article

A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.

The Journal of molecular diagnostics : JMD - 1 Sept 2016

Hayward Bruce E, Zhou Yifan, Kumari Daman, Usdin Karen

Abstract excerpt

The diagnosis and study of the fragile X-related disorders is complicated by the difficulty of amplifying the long CGG/CCG-repeat tracts that are responsible for disease pathology, the potential presence of AGG interruptions within the repeat tract that can ameliorate expansion risk, the occurrence of variable DNA methylation that modulates disease severity, and the high frequency of mosaicism for both repeat...

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Source

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Identifiers

PMID: 27528259
DOI: 10.1016/j.jmoldx.2016.06.001
PMCID: PMC5807930

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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