Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency in various populations has become important for developing screening programs for...

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Detalles Bibliográficos
Autores principales: Park, Jong Eun, Yun, Sun Ae, Roh, Eun Youn, Yoon, Jong Hyun, Shin, Sue, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054693/
https://www.ncbi.nlm.nih.gov/pubmed/32067433
http://dx.doi.org/10.3343/alm.2020.40.4.326

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054693/
https://www.ncbi.nlm.nih.gov/pubmed/32067433
http://dx.doi.org/10.3343/alm.2020.40.4.326

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