Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.


The yeast Saccharomyces cerevisiae was used to validate the pathogenic significance of eight human mutations in the gene encoding for the mitochondrial DNA polymerase gamma, namely G303R, S305R, R386H, R574W, P625R, D930N, K947R and P1073L, among which three are novel and four are of unclear pathological significance. Mitochondrial DNA extended and point… (More)
DOI: 10.1016/j.mito.2010.09.007


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