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...

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Bibliographic Details
Published in:Int J Neonatal Screen
Main Authors: 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
Format: Artigo
Language:Inglês
Published: MDPI 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7423012/
https://ncbi.nlm.nih.gov/pubmed/33073034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6020043
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