Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are severe autosomal recessive disorders associated with decreased mtDNA copy number in clinically affected tissues. The hepatocerebral form (mtDNA depletion in liver and brain) has been associated with mutations in the POLG, PEO1 (Twinkle), DGUOK...

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Main Authors: Uusimaa, Johanna, Evans, Julie, Smith, Conrad, Butterworth, Anna, Craig, Kate, Ashley, Neil, Liao, Chunyan, Carver, Janet, Diot, Alan, Macleod, Lorna, Hargreaves, Iain, Al-Hussaini, Abdulrahman, Faqeih, Eissa, Asery, Ali, Al Balwi, Mohammed, Eyaid, Wafaa, Al-Sunaid, Areej, Kelly, Deirdre, van Mourik, Indra, Ball, Sarah, Jarvis, Joanna, Mulay, Arundhati, Hadzic, Nedim, Samyn, Marianne, Baker, Alastair, Rahman, Shamima, Stewart, Helen, Morris, Andrew AM, Seller, Anneke, Fratter, Carl, Taylor, Robert W, Poulton, Joanna
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3895632/
https://ncbi.nlm.nih.gov/pubmed/23714749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.112
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