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

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

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

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Bibliographic Details
Main Authors: Yogik Onky Silvana Wijaya, Jamiyan Purevsuren, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Yoshihiro Bouike, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Cempaka Thursina, Sunartini Hapsara, Seiji Yamaguchi, Hisahide Nishio, Masakazu Shinohara
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:International Journal of Neonatal Screening
Subjects:
spinal muscular atrophy
carrier
<i>SMN1</i>
dried blood spot
quantitative nested PCR
Online Access:https://www.mdpi.com/2409-515X/6/2/43

Internet

https://www.mdpi.com/2409-515X/6/2/43

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