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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Masotti, Cibele, Ornelas, Camila C, Splendore-Gordonos, Alessandra, Moura, Ricardo, Félix, Têmis M, Alonso, Nivaldo, Camargo, Anamaria A, Passos-Bueno, Maria Rita
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2009
Gaiak:
Research article
Sarrera elektronikoa: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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