Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis-Reference-Cited by-同舟云学术

Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis

Published:2021-04-01 Issue:4 Volume:25 Page:293-301
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Wijaya Yogik Onky Silvana¹,Nishio Hisahide²,Niba Emma Tabe Eko¹,Shiroshita Tomoyoshi²³,Kato Masako²,Bouike Yoshihiro⁴,Tode Chisato⁵,Ar Rochmah Mawaddah⁶,Harahap Nur Imma Fatimah⁷,Nurputra Dian Kesumapramudya⁸,Okamoto Kentaro⁹,Saito Toshio¹⁰,Takeuchi Atsuko⁵,Lai Poh San¹¹,Yamaguchi Seiji¹²,Shinohara Masakazu¹

Affiliation:

1. Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.

2. Faculty of Medical Rehabilitation, Kobe Gakuin University, Kobe, Japan.

3. Sekisui Medical CO., LTD. 1-3, Tokyo, Japan.

4. Faculty of Nutrition, Kobe Gakuin University, Kobe, Japan.

5. Instrumental Analysis Center, Kobe Pharmaceutical University, Kobe, Japan.

6. Department of Neurology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

7. Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

8. Department of Pediatrics, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

9. Department of Pediatrics, Ehime Prefectural Imabari Hospital, Imabari, Japan.

10. Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan.

11. Department of Pediatrics, National University of Singapore, Singapore, Singapore.

12. Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2020.0312

Reference35 articles.

1. Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells

2. Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

3. Newborn screening for SMA in Southern Belgium

4. Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy

5. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

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