Quantitative and structural features of the SMN1 and SMN2 genes in patients with spinal muscular atrophy 5q
Background. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by loss of motor neurons. The cause of neurodegeneration is predominantly a homozygous deletion of the SMN1 gene, leading to a decrease in the synthesis of the SMN protein. The clinical picture o...
| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Russian |
| Publicado: |
ABV-press
2024-12-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Acceso en liña: | https://nmb.abvpress.ru/jour/article/view/632 |