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Article

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2015

Nolin Sarah L, Glicksman Anne, Ersalesi Nicole, Dobkin Carl, Brown W Ted, Cao Ru, Blatt Eliot, Sah Sachin, Latham Gary J, Hadd Andrew G

Abstract excerpt

PURPOSE: Fragile X CGG repeat alleles often contain one or more AGG interruptions that influence allele stability and risk of a full mutation transmission from parent to child. We have examined transmissions of maternal and paternal alleles with 45-90 repeats to quantify the effect of AGG interruptions on fragile X repeat instability. METHODS: A novel FMR1 polymerase chain reaction assay was used to determine CGG...

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

Share to Fragile X Mental Retardation Protein

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Source

Identifiers

PMID: 25210937
DOI: 10.1038/gim.2014.106

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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