Article
Heterologous inferential analysis (HIA) as a method to understand the role of mitochondrial rRNA mutations in pathogenesis.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2015
Elson Joanna L, Smith Paul M, Vila-Sanjurjo Antón
Abstract excerpt
Despite the identification of a large number of potentially pathogenic variants in the mitochondrially encoded rRNA (mt-rRNA) genes, we lack direct methods to firmly establish their pathogenicity. In the absence of such methods, we have devised an indirect approach named heterologous inferential analysis or HIA that can be used to make predictions on the disruptive potential of a large subset of mt-rRNA variants....
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