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Exonic mutations and exon skipping: lessons learned from DFNA5
Dysregulation of splicing is a common factor underlying many inherited diseases including deafness. For one deafness-associated gene, DFNA5, perturbation of exon 8 splicing results in a constitutively active truncated protein. To date only intronic mutations have been reported to cause exon 8 skippi...
Gorde:
| Argitaratua izan da: | Hum Mutat |
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| Egile Nagusiak: | , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5805621/ https://ncbi.nlm.nih.gov/pubmed/29266521 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23384 |
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