Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy

Abstract Spinal muscular atrophy (SMA) is the second most common fatal genetic disease in infancy. It is caused by deletion or intragenic pathogenic variants of the causative gene SMN1, which degenerates anterior horn motor neurons and leads to progressive myasthenia and muscle atrophy. Early treatm...

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Principais autores:	Ju Long, Di Cui, Chunhui Yu, Wanli Meng
格式:	Artigo
语言:	Inglês
出版:	BMC 2024-09-01
丛编:	Human Genomics
主题:	Spinal muscular atrophy (SMA) Multiplex ligation-dependent probe amplification (MLPA) Quantitative polymerase chain reaction (qPCR) Comprehensive SMA analysis (CASMA) Third-generation sequencing (TGS)
在线阅读:	https://doi.org/10.1186/s40246-024-00676-8
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