Article
Toward a mtDNA locus-specific mutation database using the LOVD platform.
Human mutation - 1 Sept 2012
Elson Joanna L, Sweeney Mary G, Procaccio Vincent, Yarham John W, Salas Antonio, Kong Qing-Peng, van der Westhuizen Francois H, Pitceathly Robert D S, Thorburn David R, Lott Marie T, Wallace Douglas C, Taylor Robert W, McFarland Robert
Abstract excerpt
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, identification of the pathogenic mutations responsible can be problematic. In this article, we provide explanations as to why and suggest how such difficulties might be overcome. We put...
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