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Heteroplasmy in the control region of human mitochondrial DNA.

    • Laboratori d'Antropologia, Facultat de Biologia, Universitat de Barcelona, Spain.
Published August 1, 1995. Vol 5 Issue 1, pp. 89-90. https://doi.org/10.1101/gr.5.1.89
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cover of Genome Research Vol 36 Issue 4
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April 2026, Vol. 36, No. 4
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Abstract

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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