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Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype
Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene reduces the clinical severity of disease, and it is d...
Autores principales: | Zhuri, Drenushe, Gurkan, Hakan, Eker, Damla, Karal, Yasemin, Yalcintepe, Sinem, Atli, Engin, Demir, Selma, Atli, Emine Ikbal |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Georg Thieme Verlag KG
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9444347/ https://www.ncbi.nlm.nih.gov/pubmed/36071912 http://dx.doi.org/10.1055/s-0042-1751302 |
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