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Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson BH, Mitchell GA. Debray FG, et al. Neuropediatrics. 2008 Feb;39(1):20-3. doi: 10.1055/s-2008-1077084. Neuropediatrics. 2008. PMID: 18504677
Approaches to DNA mutagenesis: an overview.
Ling MM, Robinson BH. Ling MM, et al. Anal Biochem. 1997 Dec 15;254(2):157-78. doi: 10.1006/abio.1997.2428. Anal Biochem. 1997. PMID: 9417773 Review.
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH. Carbone MA, et al. Am J Hum Genet. 1998 Jun;62(6):1312-9. doi: 10.1086/301884. Am J Hum Genet. 1998. PMID: 9585612 Free PMC article.
Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction.
Raha S, Merante F, Shoubridge E, Myint AT, Tein I, Benson L, Johns T, Robinson BH. Raha S, et al. Hum Mutat. 1999;13(3):245-54. doi: 10.1002/(SICI)1098-1004(1999)13:3<245::AID-HUMU9>3.0.CO;2-B. Hum Mutat. 1999. PMID: 10090480
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