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Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder mainly caused by homozygous deletions that include exon 7 of the survival motor neuron 1 (SMN1) gene. A nearby paralog gene, SMN2, obstructs the specific detection of SMN1. We optimized a duplexed real-time PC...

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Detalles Bibliográficos
Autores principales: Pan, Jianyan, Zhang, Chunhua, Teng, Yanling, Zeng, Sijing, Chen, Siyi, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Laboratory Medicine 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7443528/
https://www.ncbi.nlm.nih.gov/pubmed/32829585
http://dx.doi.org/10.3343/alm.2021.41.1.101

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