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Article

Altered expression of the FMR1 splicing variants landscape in premutation carriers.

Biochimica et biophysica acta. Gene regulatory mechanisms - 1 Nov 2017

Tseng Elizabeth, Tang Hiu-Tung, AlOlaby Reem Rafik, Hickey Luke, Tassone Flora

Abstract excerpt

FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. Approximately 20% of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a number of clinical problems affecting premutation carriers throughout their life span. Marked elevation in FMR1 mRNA...

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Source

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Identifiers

PMID: 28888471
DOI: 10.1016/j.bbagrm.2017.08.007
PMCID: PMC5933929

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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