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,...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Nozu, Kandai, Iijima, Kazumoto, Ohtsuka, Yasufumi, Fu, Xue Jun, Kaito, Hiroshi, Nakanishi, Koichi, Vorechovsky, Igor
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Blackwell Publishing Ltd 2014
Pynciau:
Original Articles
Mynediad Ar-lein: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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