| 1 | MT-CYB
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| The mtDNA 15497 G/A polymorphism in cytochrome b in severe obese subjects from Southern Italy.
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| Liguori R, Mazzaccara C, Pasanisi F, Buono P, Oriani G, Finelli C, Contaldo F, Sacchetti L.
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| Nutr Metab Cardiovasc Dis 16(7):466-70. Epub 2005 Nov 28. 2006
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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | MT-CYB, MTMPEI
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| A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.
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| Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, Sue CM, Krishna S, Hadjigeorgiou GM, Shtilbans A, Bonilla E, DiMauro S.
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| Ann Neurol 45(1):127-30.
1999
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| 6 | MT-CYB, MTMPEI
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| Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
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| Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S.
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| N Engl J Med 341(14):1037-44.
1999
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| 7 | MAP6, MT-ATP8, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TA, MT-TC, MTTS1
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| Sequence and organization of the human mitochondrial genome.
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| Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG.
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| Nature 290(5806):457-65. 1981
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