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Article

Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.

Gene - 17 Mar 2004

So Rolando B, Gonzales Bianca, Henning Dale, Dixon Jill, Dixon Michael J, Valdez Benigno C

Abstract excerpt

Treacher Collins syndrome (TCS) is characterized by an abnormality in craniofacial development during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle. Genetic and proteomic characterizations of TCS/treacle are based on the previously reported 26 exons of TCOF1. Here, we report the identification of 231-nucleotide (nt) exon 6A (between exons 6...

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Source

Identifiers

PMID: 15019983
DOI: 10.1016/j.gene.2003.11.027

Genes

TCOF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.PMID 15019983Read ↗

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