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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Bibliografiske detaljer
Main Authors: Nozu, Kandai, Iijima, Kazumoto, Ohtsuka, Yasufumi, Fu, Xue Jun, Kaito, Hiroshi, Nakanishi, Koichi, Vorechovsky, Igor
Format: Artigo
Sprog:Inglês
Udgivet: Blackwell Publishing Ltd 2014
Fag:
Original Articles
Online adgang: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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