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

机译：使用干血斑测定SMN1拷贝数评估脊髓肌萎缩载体状态

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Yogik Onky Silvana Wijaya; Jamiyan Purevsuren; Nur Imma Fatimah Harahap; Emma Tabe Eko Niba; Yoshihiro Bouike; Dian Kesumapramudya Nurputra; Mawaddah Ar Rochmah; Cempaka Thursina; Sunartini Hapsara; Seiji Yamaguchi; Hisahide Nishio; Masakazu Shinohara;
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1. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing [J] . Feng Yanming, Ge Xiaoyan, Meng Linyan, Genetics in medicine . 2017,第8期

机译：下一代基于群体的脊髓肌萎缩载体筛选：通过大规模平行测序进行全面的泛族SMN1拷贝数和序列变体分析
2. Spinal muscular atrophy carriers with two SMN1 copies [J] . Mawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya, Brain & Development . 2017,第10期

机译：脊柱肌肉萎缩载体，具有两个SMN1副本
3. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene [J] . AlíasL., BarcelóM.J., BernalS., Clinical Genetics: An International Journal of Genetics in Medicine . 2014,第5期

机译：两份SMN1基因改善了脊髓性肌萎缩症携带者的检测和遗传咨询
4. System for quantitative assessment of spinal muscular atrophy [C] . Glass, D.S., Ross, . 1988

机译：脊髓性肌萎缩症定量评估系统
5. Spinal Muscular Atrophy (SMA): The Newborn and Carrier Screening Debate [D] . Ehivet, Fabienne Estelle 2012

机译：脊髓性肌萎缩症（SMA）：新生儿和携带者筛查辩论
6. High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR [O] . Ludwig Czibere, Siegfried Burggraf, Tobias Fleige, 2020

机译：快速核酸中脊髓肌萎缩的高通量遗传新生儿筛选干燥血液斑和384孔QPCR
7. Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy [O] . Annuska Strunk, Andre Abbes, Antoine Stuitje, 2019

机译：验证脊柱肌萎缩的干血斑上快速，坚固，廉价，双重新生儿筛查试验算法

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

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