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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R709X
cDNA Position: 2125 c→t (exon 12)
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Disease | Genetics | Frequency | Reference |
PEO | Found as compound with T251I. | (Del Bo et al., 2003) PubMed |
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PEO | Found as compound with T251I-P587L in a pt. w/ mtDNA deletions. | Di Fonzo 2003: Not found in 100 DNA samples from healthy Italians |
(Di Fonzo et al., 2003) PubMed |