Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

Mutations in nuclear genes involved in the maintenance of mitochondrial DNA (mtDNA) are associated with an extensive spectrum of clinical phenotypes, manifesting as either mtDNA depletion syndromes or multiple mtDNA deletion disorders.(1)

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Alston, Charlotte L., Schaefer, Andrew M., Raman, Pravrutha, Solaroli, Nicola, Krishnan, Kim J., Blakely, Emma L., He, Langping, Craig, Kate, Roberts, Mark, Vyas, Aashish, Nixon, John, Horvath, Rita, Turnbull, Douglass M., Karlsson, Anna, Gorman, Grainne S., Taylor, Robert W.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Lippincott Williams & Wilkins 2013
Ämnen:
Clinical/Scientific Notes
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3854830/
https://ncbi.nlm.nih.gov/pubmed/24198295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000436931.94291.e6
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