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Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene

1 Oct 1996

Abstract excerpt

Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and cleft palate. Recently, the Treacher Collins syndrome gene (TCOF1) has been positionally cloned and a series of five mutations within the coding sequence of the gene identified. In the current investigation, seven exons of TCOF1 have been identified which has permitted...

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Identifiers

PMID: 8894686
DOI: 10.1093/hmg/5.10.1533

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Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the genePMID 8894686Read ↗

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