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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J. Tarpey PS, et al. Nat Genet. 2007 Sep;39(9):1127-33. doi: 10.1038/ng2100. Epub 2007 Aug 19. Nat Genet. 2007. PMID: 17704778 Free PMC article.
Immunochemistry of lysosomal storage disorders.
Parkinson-Lawrence E, Fuller M, Hopwood JJ, Meikle PJ, Brooks DA. Parkinson-Lawrence E, et al. Clin Chem. 2006 Sep;52(9):1660-8. doi: 10.1373/clinchem.2005.064915. Epub 2006 Jul 13. Clin Chem. 2006. PMID: 16840586 Review.
Immunochemical analysis of CD107a (LAMP-1).
Parkinson-Lawrence EJ, Dean CJ, Chang M, Hopwood JJ, Meikle PJ, Brooks DA. Parkinson-Lawrence EJ, et al. Cell Immunol. 2005 Jul-Aug;236(1-2):161-6. doi: 10.1016/j.cellimm.2005.08.024. Epub 2005 Sep 15. Cell Immunol. 2005. PMID: 16168398
26 results