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...

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Detalles Bibliográficos
Autores principales: Zhuri, Drenushe, Gurkan, Hakan, Eker, Damla, Karal, Yasemin, Yalcintepe, Sinem, Atli, Engin, Demir, Selma, Atli, Emine Ikbal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2022
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

Internet

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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