Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome

French Canadian Leigh Syndrome (LSFC) is an early-onset, progressive neurodegenerative disorder with a distinct pattern of tissue involvement. Most cases are caused by a founder missense mutation in LRPPRC. LRPPRC forms a ribonucleoprotein complex with SLIRP, another RNA-binding protein, and this st...

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Bibliografski detalji
Izdano u:Hum Mol Genet
Glavni autori: Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Weraarpachai, Woranontee, Shoubridge, Eric A., Allen, Bruce, Burelle, Yan, Charron, Guy, Coderre, Lise, DesRosiers, Christine, Laprise, Catherine, Morin, Charles, Rioux, John
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2015
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Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4275074/
https://ncbi.nlm.nih.gov/pubmed/25214534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu468
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