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Page 1
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H. Sarkozy A, et al. Among authors: turnbull d. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
Combined enzyme defect of mitochondrial fatty acid oxidation.
Jackson S, Kler RS, Bartlett K, Briggs H, Bindoff LA, Pourfarzam M, Gardner-Medwin D, Turnbull DM. Jackson S, et al. Among authors: turnbull dm. J Clin Invest. 1992 Oct;90(4):1219-25. doi: 10.1172/JCI115983. J Clin Invest. 1992. PMID: 1401059 Free PMC article.
Defects of the respiratory chain.
Bindoff LA, Turnbull DM. Bindoff LA, et al. Among authors: turnbull dm. Baillieres Clin Endocrinol Metab. 1990 Sep;4(3):583-619. doi: 10.1016/s0950-351x(05)80069-2. Baillieres Clin Endocrinol Metab. 1990. PMID: 2176453 Review. No abstract available.
1,170 results