Treacher Collins syndrome gene
Treacher Collins syndrome gene
(trē'chĕr kal'inz), a mutation of the gene is responsible for cases of Treacher Collins syndrome; located at 5q32-33; gene encodes the protein treacle, a possible nucleolar-cytoplasmic transporter.
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References in periodicals archive
Identification of the complete coding sequence and genomic organization of the
Treacher Collins syndrome gene. Genome Res 1997;7:223-34.
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