Skip Navigation

Human DNA Polymerase Gamma Mutation Database

Search

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: R374X
cDNA Position: 1120 c→t (STOP) (exon 5)
Disease Genetics Frequency Reference
Alpers Found in trans w/A467T. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Back
to Top