The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype
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.
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2016-01-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/ncomms10488 |
| _version_ | 1818398597355405312 |
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| author | J. Martone F. Briganti I. Legnini M. Morlando E. Picillo O. Sthandier L. Politano I. Bozzoni |
| author_facet | J. Martone F. Briganti I. Legnini M. Morlando E. Picillo O. Sthandier L. Politano I. Bozzoni |
| author_sort | J. Martone |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T07:07:19Z |
| format | Article |
| id | doaj.art-cde74dabd3154dcf86f0d62713aa6f7b |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-14T07:07:19Z |
| publishDate | 2016-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-cde74dabd3154dcf86f0d62713aa6f7b2022-12-21T23:12:07ZengNature PortfolioNature Communications2041-17232016-01-01711810.1038/ncomms10488The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotypeJ. Martone0F. Briganti1I. Legnini2M. Morlando3E. Picillo4O. Sthandier5L. Politano6I. Bozzoni7Department of Biology and Biotechnology Charles Darwin, Sapienza University of RomeDepartment of Biology and Biotechnology Charles Darwin, Sapienza University of RomeDepartment of Biology and Biotechnology Charles Darwin, Sapienza University of RomeDepartment of Biology and Biotechnology Charles Darwin, Sapienza University of RomeDepartment of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of NapoliDepartment of Biology and Biotechnology Charles Darwin, Sapienza University of RomeDepartment of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of NapoliDepartment of Biology and Biotechnology Charles Darwin, Sapienza University of RomeMuscular 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.https://doi.org/10.1038/ncomms10488 |
| spellingShingle | J. Martone F. Briganti I. Legnini M. Morlando E. Picillo O. Sthandier L. Politano I. Bozzoni The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype Nature Communications |
| title | The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype |
| title_full | The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype |
| title_fullStr | The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype |
| title_full_unstemmed | The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype |
| title_short | The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype |
| title_sort | lack of the celf2a splicing factor converts a duchenne genotype into a becker phenotype |
| url | https://doi.org/10.1038/ncomms10488 |
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