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: L966R cDNA Position: 2897 t→g (exon 18)
Disease	Genetics	Frequency	Reference
Alpers	Compound with A467T	Not found in 300 control chromosomes	(Nguyen et al., 2006) PubMed
Alpers	In trans w/A467T.		(Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed
Alpers	Found in trans w/A467T in a 1 y.o. w/ seizures and developmentally delayed		(Hunter et al., 2011) PubMed
Alpers	Found in trans w/A467T in a 1 y.o. w/ seizures and developmentally delayed		(Hunter et al., 2011) PubMed
Alpers	Found in trans w/A467T in a 17 mo. old male with seizures and encephalopathy		(McCoy et al., 2011) PubMed