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Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY
Mutation-induced activation of splice sites in intronic repetitive sequences has contributed significantly to the evolution of exon–intron structure and genetic disease. Such events have been associated with mutations within transposable elements, most frequently in mutation hot-spots of Alus. Here,...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Blackwell Publishing Ltd
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4190880/ https://ncbi.nlm.nih.gov/pubmed/25333070 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.89 |
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