Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. While mutations in POLG1, the gene encoding the gamma subunit of the mitochondrial DNA polymerase, have been associated with A...

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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: Sofou, Kalliopi, Kollberg, Gittan, Holmström, Maria, Dávila, Marcela, Darin, Niklas, Gustafsson, Claes M, Holme, Elisabeth, Oldfors, Anders, Tulinius, Már, Asin-Cayuela, Jorge
Materialtyp: Artigo
Språk:Inglês
Publicerad: BlackWell Publishing Ltd 2015
Ämnen:
Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4299715/
https://ncbi.nlm.nih.gov/pubmed/25629079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.115
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