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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Detalles Bibliográficos
Autores principales: Nozu, Kandai, Iijima, Kazumoto, Ohtsuka, Yasufumi, Fu, Xue Jun, Kaito, Hiroshi, Nakanishi, Koichi, Vorechovsky, Igor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190880/
https://www.ncbi.nlm.nih.gov/pubmed/25333070
http://dx.doi.org/10.1002/mgg3.89

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190880/
https://www.ncbi.nlm.nih.gov/pubmed/25333070
http://dx.doi.org/10.1002/mgg3.89

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