Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Nonsense-mediated mRNA decay (NMD) is of universal biological significance1-3. It has emerged as an important global RNA, DNA and translation regulatory pathway4. By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation database) on the human X chromosome in 250 families...

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Główni autorzy: Tarpey, Patrick S, Raymond, F Lucy, Nguyen, Lam S, Rodriguez, Jayson, Hackett, Anna, Vandeleur, Lucianne, Smith, Raffaella, Shoubridge, Cheryl, Edkins, Sarah, Stevens, Claire, O'Meara, Sarah, Tofts, Calli, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Halliday, Kelly, Hills, Katy, Jones, David, Mironenko, Tatiana, Perry, Janet, Varian, Jennifer, West, Sofie, Widaa, Sara, Teague, John, Dicks, Ed, Butler, Adam, Menzies, Andrew, Richardson, David, Jenkinson, Andrew, Shepherd, Rebecca, Raine, Keiran, Moon, Jenny, Luo, Yin, Parnau, Josep, Bhat, Shambhu S, Gardner, Alison, Corbett, Mark, Brooks, Doug, Thomas, Paul, Parkinson-Lawrence, Emma, Porteous, Mary E, Warner, John P, Sanderson, Tracy, Pearson, Pauline, Simensen, Richard J, Skinner, Cindy, Hoganson, George, Superneau, Duane, Wooster, Richard, Bobrow, Martin, Turner, Gillian, Stevenson, Roger E, Schwartz, Charles E, Futreal, P Andrew, Srivastava, Anand K, Stratton, Michael R, Gécz, Jozef
Format: Artigo
Język:Inglês
Wydane: 2007
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Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2872770/
https://ncbi.nlm.nih.gov/pubmed/17704778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng2100
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