| 1 | MTCYB, MT-CYB
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| A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.
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| Blakely EL, Mitchell AL, Fisher N, Meunier B, Nijtmans LG, Schaefer AM, Jackson MJ, Turnbull DM, Taylor RW.
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| FEBS J 272(14):3583-92. 2005
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| 2 | MTCYB, MT-CYB
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| The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
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| Haut S, de Villemeur TB, Brivet M, Guiochon-Mantel A, Boutron A, Rustin P, Legrand A, Slama A.
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| Eur J Hum Genet 12(3):220-4. 2004
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| 3 | MTCYB, MT-CYB
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| Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.
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| Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, Kennaway NG.
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| Am J Hum Genet 67(6):1400-10. 2000
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