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Article

Mutation testing in Treacher Collins Syndrome.

Journal of orthodontics - 1 Dec 2002

Ellis P E, Dawson M, Dixon M J

Abstract excerpt

OBJECTIVE: To report on a study where 97 subjects were screened for mutations in the Treacher Collins syndrome (TCS) gene TCOF1. METHOD: Ninety-seven subjects with a clinical diagnosis of TCS were screened for potential mutations in TCOF1, by means of single strand conformation polymorphism (SSCP) analysis. In those subjects where potential mutations were detected, sequence analysis was performed to determine the...

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Source

Identifiers

PMID: 12444270
DOI: 10.1093/ortho/29.4.293

Genes

TCOF1

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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Mutation testing in Treacher Collins Syndrome.PMID 12444270Read ↗

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Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the geneSemantic proximity Read ↗

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