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Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development caused by mutations in the gene TCOF1. Its gene product, treacle, consists mainly of a central repeat domain, which shows it to be structurally related to the nucleolar phosphoprotein Nopp140. Treacle remai...

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Publicado no:Mol Biol Cell
Principais autores: Isaac, Cynthia, Marsh, Karen L., Paznekas, William A., Dixon, Jill, Dixon, Michael J., Jabs, Ethylin Wang, Meier, U. Thomas
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Cell Biology 2000
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Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC14975/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10982400/
https://ncbi.nlm.nih.govhttps://doi.org/10.1091/mbc.11.9.3061
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