The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Mitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease
Open accessAbstract
The unorthodox genetics of the mtDNA is providing new perspectives on the etiology of the common "complex" diseases. The maternally inherited mtDNA codes for essential energy genes, is present in thousands of copies per cell, and has a very high mutation rate. New mtDNA mutations arise among thousands of other mtDNAs. The mechanisms by which these "heteroplasmic" mtDNA mutations come to predominate in the female germline and somatic tissues is poorly understood, but essential for understanding the clinical variability of a range of diseases. Maternal inheritance and heteroplasmy also pose major challengers for the diagnosis and prevention of mtDNA disease.
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Cites
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Metadata
- Authors
- Wallace, D. C., & Chalkia, D.
- Venue
- Cold Spring Harbor Perspectives in Biology
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2013-11-01
- Volume
- 5
- Issue
- 11
- Pages
- a021220-a021220
- ISSN
- 1943-0264 (ISSN-L)
- OpenAlex
- W2132820862
- Cited by
- 654
- References
- 16
- Type
- posted content
- Language
- en
- Open access
- bronze
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