Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

BACKGROUND: Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD). Hapl...

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Detalles Bibliográficos
Autores principales: Masotti, Cibele, Ornelas, Camila C, Splendore-Gordonos, Alessandra, Moura, Ricardo, Félix, Têmis M, Alonso, Nivaldo, Camargo, Anamaria A, Passos-Bueno, Maria Rita
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2801500/
https://www.ncbi.nlm.nih.gov/pubmed/20003452
http://dx.doi.org/10.1186/1471-2350-10-136

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