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,...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
2014-09.
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| Subjects: | |
| Online Access: | Get fulltext |