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.
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Nature Portfolio
2016
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oai:doaj.org-article:cde74dabd3154dcf86f0d62713aa6f7b2021-12-02T17:33:21ZThe lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype10.1038/ncomms104882041-1723https://doaj.org/article/cde74dabd3154dcf86f0d62713aa6f7b2016-01-01T00:00:00Zhttps://doi.org/10.1038/ncomms10488https://doaj.org/toc/2041-1723Muscular 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.J. MartoneF. BrigantiI. LegniniM. MorlandoE. PicilloO. SthandierL. PolitanoI. BozzoniNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-8 (2016) |
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DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q 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 |
| 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. |
| format |
article |
| 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 |
| title |
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_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_sort |
lack of the celf2a splicing factor converts a duchenne genotype into a becker phenotype |
| publisher |
Nature Portfolio |
| publishDate |
2016 |
| url |
https://doaj.org/article/cde74dabd3154dcf86f0d62713aa6f7b |
| work_keys_str_mv |
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