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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: A957S cDNA Position: 2869 g→t (exon 18)
Disease	Genetics	Frequency	Reference
PEO	Found as both a heterozygous and as a homozygous mutation in one individual in two Sicilian families.	Lamantea, 2002: Not found in a control group of 100 DNA samples from unrelated Italians	(Lamantea et al., 2002) PubMed
PEO	ad PEO. Studied the pathological and biochemical consequences of several PEO mutations by modeling the amino acid changes and structure pol _. In order to correlate mutation and disease severity.		(Graziewicz et al., 2004) PubMed
PEO	Demonstrate that S. cerevisiae provides a useful in vivo system for quickly evaluating the biological consequences of identified, or suspected, PEO mutation loci.		(Stuart et al., 2006) PubMed

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