Article

Identifying inversions with Breakpoints in the Dystrophin Gene through Long-Read Sequencing: Report of Two Cases

2024-03-22

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the <italic>DMD</italic> gene, with large deletions being the most frequent type of mutation. Large inversions involving the <italic>DMD</italic> gene are a less common cause of the disorder, primarily because they often elude detection by standard diagnostic methods such as multipl...

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Literature Corpus work: da2c6447-6bcf-5c11-96b3-6cac9522c248
DOI: 10.21203/rs.3.rs-3982190/v1

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