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

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

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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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artikel
Taal:English
Gepubliceerd in: MDPI 2022
Onderwerpen:
Paediatrics
Online toegang:https://repository.ugm.ac.id/283795/1/genes-13-02110-v3.pdf

Internet

https://repository.ugm.ac.id/283795/1/genes-13-02110-v3.pdf

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