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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: E873X
cDNA Position: 2617 g→t (exon 17)
Disease Genetics Frequency Reference
Alpers Found in trans with A467T and under goes nonsense-mediated decay for mono-allelic expression of POLG Not found in 40 alleles from non-Alpers mitochondrial disease patients (Chan et al., 2005b)
PubMed
Alpers Found in trans with A467T Not found in 40 alleles from non-Alpers mitochondrial disease patients (Naviaux and Nguyen, 2004)
PubMed
Alpers Found in trans w/A467 in and 18 mo. old male w/ mtDNA depletion (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
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