Evaluating the performance of four assays for carrier screening of spinal muscular atrophy-Reference-Cited by-同舟云学术

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Evaluating the performance of four assays for carrier screening of spinal muscular atrophy

Published:2023-08 Issue: Volume:548 Page:117496
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Tan Jianxin,Zhang Jingjing,Sun Ruihong,Jiang Zhu,Wang Yuguo,Ma Dingyuan,Jiao Jiao,Chen Hao,Lin Yingchun,Zhang Qinxin,Xu Zhengfeng,Hu Ping

Funder

National Key Research and Development Program of China

National Key Research and Development Program of China Stem Cell and Translational Research

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference39 articles.

1. Spinal muscular atrophy;Lunn;Lancet,2008

2. Differences in SMN1 allele frequencies among ethnic groups within North America;Hendrickson;J Med Genet,2009

3. Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy;Al-Zaidy;Pediatr Pulmonol,2019

4. Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy;Corey;Nat Neurosci,2017

5. Nusinersen: The First Option Beyond Supportive Care for Spinal Muscular Atrophy;Maharshi;Clin Drug Investig,2017

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2. Analytical validation of the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis assay to diagnose spinal muscular atrophy;Clinical Chemistry and Laboratory Medicine (CCLM);2024-06-12

3. Prenatal carrier screening for spinal muscular atrophy among Thai pregnant women;2024-04-22

4. Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women;Frontiers in Neurology;2024-04-09

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