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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R943H
cDNA Position: 2828 g→a (exon 18)
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Disease | Genetics | Frequency | Reference |
PEO | ad PEO. Found in 2 siblings as a homozygous mutation | Lamantea, 2002: Not found in a control group of 100 DNA samples from unrelated Italians | (Lamantea et al., 2002) PubMed |
PEO | ad PEO. Studied the pathological and biochemical consequences of several PEO mutations by modeling the amino acid changes and structure pol _. In order to correlate mutation and disease severity. | (Graziewicz et al., 2004) PubMed |
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PEO | Demonstrate that S. cerevisiae provides a useful in vivo system for quickly evaluating the biological consequences of identified, or suspected, PEO mutation loci. |
(Stuart et al., 2006) PubMed |
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Premature ovarian failure | Ad, and premature ovarian failure | <0.5% in Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
PEO and Parkinsonism | Found as a heterozygous mutation in a 63 y.o. male with PEO, resting tremors, dysarthria, and poly neuropathy, fatigue, hearing lass, and Parkinsonism | (Brandon et al., 2013) PubMed |