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)

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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Lippincott Williams & Wilkins 2013
Konular:
Clinical/Scientific Notes
Online Erişim: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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