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Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis
Genetic Testing and Molecular Biomarkers  (IF1.795),  Pub Date : 2021-04-19, DOI: 10.1089/gtmb.2020.0312
Yogik Onky Silvana Wijaya, Hisahide Nishio, Emma Tabe Eko Niba, Tomoyoshi Shiroshita, Masako Kato, Yoshihiro Bouike, Chisato Tode, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, Kentaro Okamoto, Toshio Saito, Atsuko Takeuchi, Poh San Lai, Seiji Yamaguchi, Masakazu Shinohara

Background and Aim: Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance caused by homozygous SMN1 deletions. Although SMA has been considered as incurable, newly developed drugs improve life prognoses and motor functions of patients. To maximize the efficacy of the drugs, SMA patients should be treated before symptoms become apparent. Thus, newborn screening for SMA is strongly recommended. In this study, we aim to establish a new simple screening system based on DNA melting peak analysis.