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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Publicat a:	Mol Biol Cell
Autors principals:	Isaac, Cynthia, Marsh, Karen L., Paznekas, William A., Dixon, Jill, Dixon, Michael J., Jabs, Ethylin Wang, Meier, U. Thomas
Format:	Artigo
Idioma:	Inglês
Publicat:	American Society for Cell Biology 2000
Matèries:	Article
Accés en línia:	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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