Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity

Spinal muscular atrophy (SMA) is a monogenic disorder that is subdivided into four different types and caused by survival motor neuron gene 1 (SMN1) deletion. Discordant cases of SMA suggest that there exist additional severity modifying factors, apart from the SMN2 gene copy number. Here we perform...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Zheleznyakova, Galina Y, Voisin, Sarah, Kiselev, Anton V, Sällman Almén, Markus, Xavier, Miguel J, Maretina, Marianna A, Tishchenko, Lyudmila I, Fredriksson, Robert, Baranov, Vladislav S, Schiöth, Helgi B
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2013
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3746269/
https://ncbi.nlm.nih.gov/pubmed/23299920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.293
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