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The Treacher Collins syndrome ( <i>TCOF1</i> ) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

12 Jul 2004

Abstract excerpt

Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle. Even though the genetic alterations causing TCS have been uncovered, the mechanism underlying its pathogenesis and the function of treacle remain...

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PMID: 15249688
DOI: 10.1073/pnas.0402492101

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The Treacher Collins syndrome ( <i>TCOF1</i> ) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factorPMID 15249688Read ↗

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