PMC:2495064 / 3428-4094 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":"A further complication is the strong association between specific pathogenic mtDNA mutations and closely related mtDNA polymorphisms (haplogroups), which is not thought to be due to a founder effect.10,11 However, it is not known whether the polymorphisms that define the haplogroup predispose it to de novo mutation events, whether they cause the preferential segregation of pathogenic mutations, or whether they affect clinical expression of the associated disorder. The only way of addressing these issues is by screening a large random sample of the population, with matched maternal samples, to determine whether the detected mutations are de novo or inherited.","tracks":[{"project":"2_test","denotations":[{"id":"18674747-9239541-2049166","span":{"begin":202,"end":204},"obj":"9239541"},{"id":"18674747-16532388-2049166","span":{"begin":202,"end":204},"obj":"16532388"}],"attributes":[{"subj":"18674747-9239541-2049166","pred":"source","obj":"2_test"},{"subj":"18674747-16532388-2049166","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#ecdc93","default":true}]}]}}