Article
Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations.
Proceedings of the National Academy of Sciences of the United States of America - 23 Dec 1997
Wallace D C, Stugard C, Murdock D, Schurr T, Brown M D
Abstract excerpt
Nuclear-localized mtDNA pseudogenes might explain a recent report describing a heteroplasmic mtDNA molecule containing five linked missense mutations dispersed over the contiguous mtDNA CO1 and CO2 genes in Alzheimer's disease (AD) patients. To test this hypothesis, we have used the PCR primers utilized in the original report to amplify CO1 and CO2 sequences from two independent rho degrees (mtDNA-less) cell...
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