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

INTERNATIONAL JOURNAL OF NEONATAL SCREENING Volume 6 Issue 2 published_at 2020-06
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Title
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
Creator
Wijaya Yogik Onky Silvana
Purevsuren Jamiyan
Harahap Nur Imma Fatimah
Niba Emma Tabe Eko
Bouike Yoshihiro
Nurputra Dian Kesumapramudya
Rochmah Mawaddah Ar
Thursina Cempaka
Hapsara Sunartini
Nishio Hisahide
Shinohara Masakazu
Source Title
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
Volume 6
Issue 2
Journal Identifire
EISSN 2409-515X
Subjects
spinal muscular atrophy ( Other)
carrier ( Other)
SMN1 ( Other)
dried blood spot ( Other)
quantitative nested PCR ( Other)
Language
eng
Resource Type journal article
Publisher
MDPI
Date of Issued 2020-06
Access Rights metadata only access
Relation
[DOI] 10.3390/ijns6020043
Remark This research was supported by the Ministry of Education, Culture, Sports, Science and Technology, Japan, Grant No. 20K08197.