PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan

Spinal muscular atrophy (SMA) is a common devastating neuromuscular disorder, usually involving homozygous deletion of the SMN1 gene. Newly developed drugs can improve the motor functions of infants with SMA when treated in the early stage. To ensure early diagnosis, newborn screening for SMA (SMA-N...

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Detalles Bibliográficos
Autores principales: Noguchi, Yoriko, Bo, Ryosuke, Nishio, Hisahide, Matsumoto, Hisayuki, Matsui, Keiji, Yano, Yoshihiko, Sugawara, Masami, Ueda, Go, Wijaya, Yogik Onky Silvana, Niba, Emma Tabe Eko, Shinohara, Masakazu, Bouike, Yoshihiro, Takeuchi, Atsuko, Okamoto, Kentaro, Saito, Toshio, Shimomura, Hideki, Lee, Tomoko, Takeshima, Yasuhiro, Iijima, Kazumoto, Nozu, Kandai, Awano, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690968/
https://www.ncbi.nlm.nih.gov/pubmed/36421785
http://dx.doi.org/10.3390/genes13112110

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690968/
https://www.ncbi.nlm.nih.gov/pubmed/36421785
http://dx.doi.org/10.3390/genes13112110

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