Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

Abstract

Mutations in the polymerase γ (POLG) gene are among the most common causes of mitochondrial disease and more than 160 POLG mutations have been reported. However, a large proportion of patients suspected of having POLG mutations only have one (heterozygous) definitive pathogenic mutation identified. Using oligonucleotide array CGH, we identified a compound… (More)
DOI: 10.1016/j.mito.2010.07.012

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@article{Compton2011ApplicationOO, title={Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.}, author={Alison G Compton and Christopher Troedson and Meredith H. Wilson and Peter G Procopis and Fang-Yuan Li and Ellen K. Brundage and Taro Yamazaki and David R Thorburn and L. C. Caleb Wong}, journal={Mitochondrion}, year={2011}, volume={11 1}, pages={104-7} }