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Heteroplasmy in the control region of human mitochondrial DNA.
Author(s) -
David Comas,
Svante Pääbo,
Jaume Bertranpetit
Publication year - 1995
Publication title -
genome research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.556
H-Index - 297
eISSN - 1549-5469
pISSN - 1088-9051
DOI - 10.1101/gr.5.1.89
Subject(s) - heteroplasmy , biology , mitochondrial dna , genetics , mtdna control region , human mitochondrial genetics , haplotype , gene , genotype
The sequencing of a 360-nucleotide segment of the mt DNA control region in a population survey revealed the presence of one individual having heteroplasmy in positions 16,293 (A and G) and 16,311 (C and T). This case indicates that heteroplasmy in humans may not be as rare as generally believed.

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