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

• Auteurs principaux: Yogik Onky Silvana Wijaya (Auteur), Jamiyan Purevsuren (Auteur), Nur Imma Fatimah Harahap (Auteur), Emma Tabe Eko Niba (Auteur), Yoshihiro Bouike (Auteur), Dian Kesumapramudya Nurputra (Auteur), Mawaddah Ar Rochmah (Auteur), Cempaka Thursina (Auteur), Sunartini Hapsara (Auteur), Seiji Yamaguchi (Auteur), Hisahide Nishio (Auteur), Masakazu Shinohara (Auteur)
• Format: Livre
• Publié: MDPI AG, 2020-05-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

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...