Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene, SMN1, is homozygously deleted in 95% of SMA patients. Although SMA has been an incurable disease, treatment in infancy with newly developed drugs has dramatically improved the dise...

Descripción completa

Detalles Bibliográficos
Autores principales: Wijaya, Yogik Onky Silvana, Purevsuren, Jamiyan, Harahap, Nur Imma Fatimah, Niba, Emma Tabe Eko, Bouike, Yoshihiro, Nurputra, Dian Kesumapramudya, Rochmah, Mawaddah Ar, Thursina, Cempaka, Hapsara, Sunartini, Yamaguchi, Seiji, Nishio, Hisahide, Shinohara, Masakazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423012/
https://www.ncbi.nlm.nih.gov/pubmed/33073034
http://dx.doi.org/10.3390/ijns6020043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423012/
https://www.ncbi.nlm.nih.gov/pubmed/33073034
http://dx.doi.org/10.3390/ijns6020043

Ejemplares similares