MITOMAP References for Mutation C-T at 3310

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1 12610069 2003 Hattori, Y., Nakajima, K., Eizawa, T., Ehara, T., Koyama, M., Hirai, T., Fukuda, Y., Kinoshita, M. (2003) Heteroplasmic mitochondrial DNA 3310 mutation in NADH dehydrogenase subunit 1 associated with type 2 diabetes, hypertrophic cardiomyopathy, and mental retardation in a single patient Diabetes Care . 26 (3): 952-953 .
2 15977098 2005 Hattori, Y., Takeoka, M., Nakajima, K., Ehara, T., Koyama, M. (2005) A heteroplasmic mitochondrial DNA 3310 mutation in the ND1 gene in a patient with type 2 diabetes, hypertrophic cardiomyopathy, and mental retardation Experimental and Clinical Endocrinology and Diabetes . 113 (6): 318-323 .
3 16828917 2006 Chen, J., Hattori, Y., Nakajima, K., Eizawa, T., Ehara, T., Koyama, M., Hirai, T., Fukuda, Y., Kinoshita, M., Sugiyama, A., Hayashi, J., Onaya, T., Kobayashi, T., Tawata, M. (2006) Mitochondrial complex I activity is significantly decreased in a patient with maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy associated with mitochondrial DNA C3310T mutation: a cybrid study Diabetes Research and Clinical Practice . 74 (2): 148-153 .
4 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .