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Point Mutations of the mtDNA Control Region in Normal and Neurodegenerative Human Brains
P.F. Chinnery, G.A. Taylor, N. Howell, D.T. Brown, T.J. Parsons, D.M. Turnbull The American Journal of Human Genetics Volume 68, Issue 2, Pages (February 2001) DOI: /318204 Copyright © 2001 The American Society of Human Genetics Terms and Conditions
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Figure 1 The mtDNA control region, showing the position of the sequence changes seen in brain tissue isolated from elderly normal individuals (n=31) and from individuals with either AD (n=35) or DLB (n=47), at nt 100–576 (numbered according to the revised Cambridge Reference Sequence [Anderson et al. 1981; Andrews et al. 1999]). CSB = conserved sequence blocks; d = deletion; i = insertion; LSP = light-strand promoter; mtTFA = binding site for mitochondrial transcription factor A; OH = origin of heavy-strand replication; tRNA Phe = tRNA phenylalanine gene; tRNA Pro = tRNA proline gene. The American Journal of Human Genetics , DOI: ( /318204) Copyright © 2001 The American Society of Human Genetics Terms and Conditions
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