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Article

Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy.

Investigative ophthalmology & visual science - 1 Jul 2015

Vasanth Shivakumar, Eghrari Allen O, Gapsis Briana C, Wang Jiangxia, Haller Nicolas F, Stark Walter J, Katsanis Nicholas, Riazuddin S Amer, Gottsch John D

Abstract excerpt

PURPOSE: To analyze the expansion of CTG18.1 allele associated with Fuchs' corneal dystrophy (FCD) in our large cohort of late-onset FCD cases. METHODS: CTG repeats within the CTG18.1 allele were estimated by short tandem repeat (STR) and triplet primed PCR (TP-PCR) assays in our large cohort of 574 late-onset FCD cases and 354 controls and large multigeneration familial cases. The age versus severity...

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Identifiers

PMID: 26200491
DOI: 10.1167/iovs.14-16122
PMCID: PMC4515948

Genes

TCF4

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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