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Article

Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.

American journal of medical genetics. Part A - 1 Dec 2003

Marszalek Bozena, Wisniewski Slawomir A, Wojcicki Piotr, Kobus Kazimierz, Trzeciak Wieslaw H

Abstract excerpt

Treacher Collins syndrome (TCS) is caused by mutations in the TCOF1 gene. This gene encodes a serine/alanine-rich protein called treacle. The structure of the entire TCOF1 gene was investigated in a patient with TCS. We detected a novel deletion (376delAAGGTGAGTGGGACTGCC) spanning 3 bp of exon 4 and 15 bp of the adjacent intronic sequence. This mutation causes premature termination of translation, resulting in a...

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Identifiers

PMID: 14598341
DOI: 10.1002/ajmg.a.20312

Genes

TCOF1

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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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Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.PMID 14598341Read ↗

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