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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Autori principali: Masotti, Cibele, Ornelas, Camila C, Splendore-Gordonos, Alessandra, Moura, Ricardo, Félix, Têmis M, Alonso, Nivaldo, Camargo, Anamaria A, Passos-Bueno, Maria Rita
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2009
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Research article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2801500/
https://ncbi.nlm.nih.gov/pubmed/20003452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-136
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