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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Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res 1997;7:223-34.