Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

BACKGROUND: Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e., Spinraza (Nusinersen), has been approved by the FDA, bringing hope to SMA pa...

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Detalles Bibliográficos
Autores principales: Sun, Yingjie, Kong, Xiangdong, Zhao, Zhenhua, Zhao, Xuechao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302341/
https://www.ncbi.nlm.nih.gov/pubmed/32552676
http://dx.doi.org/10.1186/s12881-020-01069-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302341/
https://www.ncbi.nlm.nih.gov/pubmed/32552676
http://dx.doi.org/10.1186/s12881-020-01069-z

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