Article

NGS-based targeted sequencing identified eight novel variants in patients with Duchenne muscular dystrophy from southwestern China

2023-02-24

Abstract excerpt

<h4>Background: </h4> At present, Multiplex ligation-dependent probe amplification (MLPA) and exome sequencing (ES) are common gene detection methods in patients with Duchenne muscular dystrophy (DMD), but they can not cover the whole genome sequence of DMD gene. In this study, the whole-genome capture of DMD gene and next-generation sequencing (NGS) technology were used to detect the patients with DMD in Southwes...

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Literature Corpus work: fdb117ce-78da-5c46-8e18-d3f3e1a83588
DOI: 10.21203/rs.3.rs-2591411/v1

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