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Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck
With a combined carrier frequency of 1:200, heteroplasmic mitochondrial DNA (mtDNA) mutations cause human disease in ∼1:5000 of the population. Rapid shifts in the level of heteroplasmy seen within a single generation contribute to the wide range in the severity of clinical phenotypes seen in famili...
Autores principales: | Wilson, Ian J., Carling, Phillipa J., Alston, Charlotte L., Floros, Vasileios I., Pyle, Angela, Hudson, Gavin, Sallevelt, Suzanne C.E.H., Lamperti, Costanza, Carelli, Valerio, Bindoff, Laurence A., Samuels, David C., Wonnapinij, Passorn, Zeviani, Massimo, Taylor, Robert W., Smeets, Hubert J.M., Horvath, Rita, Chinnery, Patrick F |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754047/ https://www.ncbi.nlm.nih.gov/pubmed/26740552 http://dx.doi.org/10.1093/hmg/ddv626 |
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