| Autor: |
J. Martone, F. Briganti, I. Legnini, M. Morlando, E. Picillo, O. Sthandier, L. Politano, I. Bozzoni |
| Jazyk: |
angličtina |
| Rok vydání: |
2016 |
| Předmět: |
|
| Zdroj: |
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016) |
| Druh dokumentu: |
article |
| ISSN: |
2041-1723 |
| DOI: |
10.1038/ncomms10488 |
| Popis: |
Muscular Dystrophy can be caused by mutations in the dystrophingene, causing the severe Duchenne form or the mild Becker form depending on if the transcript is in or out-of-frame. Here the authors identify a Duchenne-type mutation that gives a Becker-like phenotype due to skipping of exon 45. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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