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Human DNA Polymerase Gamma Mutation Database

All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: S511N cDNA Position: 1532 g→a (exon 8)
Disease	Genetics	Frequency	Reference
PEO	ad	None found in 192 ethnically matched control chromosomes nor in 108 patients with PEO and 140 cases of sporadic PD	(Hudson et al., 2006b) PubMed

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