Mitochondrial DNA mutations and human disease
Tuppen, Helen A.L., Blakely, Emma L., Turnbull, Douglass M., Taylor, Robert W.·2010·Biochimica et Biophysica Acta (BBA) - Bioenergetics
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- The Molecularised MeHub A. E. Zwart · 2018 · Cambridge University Press eBooks
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- IntroductionDonna L. Dickenson, B.C. van Beers, Sigrid Sterckx · 2018 · Cambridge University Press eBooks
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