טוען...
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...
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Main Authors: | , , , , , , , , , |
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פורמט: | Artigo |
שפה: | Inglês |
יצא לאור: |
Nature Publishing Group
2013
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נושאים: | |
גישה מקוונת: | 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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