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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: R1047W
cDNA Position: 3139 c→t (exon 20)
Disease Genetics Frequency Reference
Alpers Compound in trans with T851A Not found in over 200 control alleles (Wiltshire et al., 2008)
PubMed
PEO Found in trans w/A862T in a 61 y.o. with PEO, ataxia, and mtDNA deletions (Stewart et al., 2009)
PubMed
PEO Found in trans w/ A862T in a 61 y.o. female with PEO, ptosis, peripheral neuropathy, ataxia, and dysarthria. (Lax et al., 2012a)
PubMed
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