Human DNA Polymerase Gamma Mutation Database

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

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Amino Acid Substitution: R709X cDNA Position: 2125 c→t (exon 12)
Disease	Genetics	Frequency	Reference
PEO	Found as compound with T251I.		(Del Bo et al., 2003) PubMed
PEO	Found as compound with T251I-P587L in a pt. w/ mtDNA deletions.	Di Fonzo 2003: Not found in 100 DNA samples from healthy Italians	(Di Fonzo et al., 2003) PubMed