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Human DNA Polymerase Gamma Mutation Database


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

To search for multiple exons, hold <Ctrl> while selecting multiple options.

Amino Acid Substitution: M603L
cDNA Position: 1807 a→t (exon 10)
Disease Genetics Frequency Reference
PEO with ptosis Found as compound in trans with T251I-P587L 24 patients diagnosed with mitochondrial disease and having multiple mtDNA deletions compared to 100 controls in a Spanish population. (Gonzalez-Vioque et al., 2006)
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