Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing
Abstract Background Dystrophinopathies caused by variants in the DMD gene are a well‐studied muscle disease. The most common type of variant in DMD are large deletions. Very rarely reported forms of variants are chromosomal translocations, inversions and deep intronic variants (DIVs) because they ar...
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| Hoofdauteurs: | , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Wiley
2022-10-01
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| Reeks: | Molecular Genetics & Genomic Medicine |
| Onderwerpen: | |
| Online toegang: | https://doi.org/10.1002/mgg3.2028 |
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