Browsing Faculty of Natural and Agricultural Sciences by Subject "Haplogroup"
Now showing items 1-2 of 2
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Toward a mtDNA locus-specific mutation database using the LOVD platform
(Wiley, 2012)The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans; however, ... -
What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?
(Wiley, 2019)Mitochondrial disorders are heterogeneous, showing variable presentation and penetrance. Over the last three decades, our ability to recognize mitochondrial patients and diagnose these mutations, linking genotype to ...