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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: L428P
cDNA Position: 1283 t→c (exon 7)
Disease Genetics Frequency Reference
Alpers Found as a heterozygote w/ A467T. Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA were found with the mutation L428P. 19% (9 out of 50) had various mutations in POLG. (Sarzi et al. 2007)
PubMed
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