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Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy

The homozygous loss of the survival motor neuron 1 (SMN1) gene is the primary cause of spinal muscular atrophy (SMA), a neuromuscular degenerative disease. A genetically similar gene, SMN2, which is not functionally equivalent in all SMA patients, modifies the clinical SMA phenotypes. We analyzed th...

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Detalhes bibliográficos
Publicado no:J Zhejiang Univ Sci B
Main Authors: Cao, Yan-yan, Qu, Yu-jin, He, Sheng-xi, Li, Yan, Bai, Jin-li, Jin, Yu-wei, Wang, Hong, Song, Fang
Formato: Artigo
Idioma:Inglês
Publicado em: Zhejiang University Press 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4710843/
https://ncbi.nlm.nih.gov/pubmed/26739529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1631/jzus.B1500072
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