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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: A957P
cDNA Position: 2869 g→c (exon 18)
Disease Genetics Frequency Reference
Alpers Found in compound w/A467T in a 8 mo. old male w/ multiple complex deficiencies de Vries et al. , 2007 identified 1 (4.76%) children out of 21 with a POLG mutation that were known to have a mitochondrial disorder (de Vries et al., 2007)
PubMed
Alpers Found in compound w/A467T in a 6 mo. old w/ infantile hepatocereberal syndrome. Ferrari, 2005: absent in 200 consecutive control individuals from Northern continental Europe as well as 350 Italian controls (Ferrari et al., 2005)
PubMed
Epilepsy, liver failure, occipital strokes, and growth retardation ar, found as a compound heterozygous mutation w/ A467T <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
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