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A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. Alston CL, et al. Among authors: taylor rw. J Med Genet. 2016 Sep;53(9):634-41. doi: 10.1136/jmedgenet-2015-103576. Epub 2016 Apr 18. J Med Genet. 2016. PMID: 27091925 Free PMC article.
Treatment of mitochondrial disease.
Taylor RW, Chinnery PF, Clark KM, Lightowlers RN, Turnbull DM. Taylor RW, et al. J Bioenerg Biomembr. 1997 Apr;29(2):195-205. doi: 10.1023/a:1022646215643. J Bioenerg Biomembr. 1997. PMID: 9239544 Review.
Nonrandom tissue distribution of mutant mtDNA.
Chinnery PF, Zwijnenburg PJ, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Chinnery PF, et al. Among authors: taylor rw. Am J Med Genet. 1999 Aug 27;85(5):498-501. Am J Med Genet. 1999. PMID: 10405450
993 results