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A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.
Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. Duncan AJ, et al. Among authors: clayton pt. Am J Hum Genet. 2009 May;84(5):558-66. doi: 10.1016/j.ajhg.2009.03.018. Epub 2009 Apr 16. Am J Hum Genet. 2009. PMID: 19375058 Free PMC article.
Molecular mechanisms in mitochondrial DNA depletion syndrome.
Taanman JW, Bodnar AG, Cooper JM, Morris AA, Clayton PT, Leonard JV, Schapira AH. Taanman JW, et al. Among authors: clayton pt. Hum Mol Genet. 1997 Jun;6(6):935-42. doi: 10.1093/hmg/6.6.935. Hum Mol Genet. 1997. PMID: 9175742
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB. Tuschl K, et al. Among authors: clayton pt. Am J Hum Genet. 2012 Mar 9;90(3):457-66. doi: 10.1016/j.ajhg.2012.01.018. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341972 Free PMC article.
Inborn errors of metabolism causing epilepsy.
Rahman S, Footitt EJ, Varadkar S, Clayton PT. Rahman S, et al. Among authors: clayton pt. Dev Med Child Neurol. 2013 Jan;55(1):23-36. doi: 10.1111/j.1469-8749.2012.04406.x. Epub 2012 Sep 24. Dev Med Child Neurol. 2013. PMID: 22998469 Free article. Review.
250 results