PMC:2495064 / 2714-3427 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/2495064","sourcedb":"PMC","sourceid":"2495064","source_url":"https://www.ncbi.nlm.nih.gov/pmc/2495064","text":"Previous estimates of the carrier frequency of mtDNA mutations were largely based on the ascertainment of pedigrees through one or more clinically affected individuals, followed by careful family tracing of the maternal lineage.1–6 This raises the possibility that de novo mtDNA mutations remain undetected in the population because they are well below the threshold required for phenotypic expression or because they lie below the detection threshold of conventional sequencing. Many of these mutations would be lost through random genetic drift, causing disease only when the percentage level of mutation drifts upwards in one or more family members and exceeds the threshold required for clinical presentation.","tracks":[{"project":"2_test","denotations":[{"id":"18674747-12805096-2049165","span":{"begin":230,"end":231},"obj":"12805096"},{"id":"18674747-9683591-2049165","span":{"begin":230,"end":231},"obj":"9683591"},{"id":"18674747-10939569-2049165","span":{"begin":230,"end":231},"obj":"10939569"},{"id":"18674747-11261513-2049165","span":{"begin":230,"end":231},"obj":"11261513"},{"id":"18674747-17823937-2049165","span":{"begin":230,"end":231},"obj":"17823937"},{"id":"18674747-17886296-2049165","span":{"begin":230,"end":231},"obj":"17886296"}],"attributes":[{"subj":"18674747-12805096-2049165","pred":"source","obj":"2_test"},{"subj":"18674747-9683591-2049165","pred":"source","obj":"2_test"},{"subj":"18674747-10939569-2049165","pred":"source","obj":"2_test"},{"subj":"18674747-11261513-2049165","pred":"source","obj":"2_test"},{"subj":"18674747-17823937-2049165","pred":"source","obj":"2_test"},{"subj":"18674747-17886296-2049165","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#ecb393","default":true}]}]}}