An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue

GU-AG consensus sequences are used for intron recognition in the majority of cases of pre-mRNA splicing in eukaryotes. Mutations at splice junctions often cause exon skipping, short deletions, or insertions in the mature mRNA, underlying one common molecular mechanism of genetic diseases. Using N-et...

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Published in:Sci Rep
Main Authors: Tabeta, Koichi, Du, Xin, Arimatsu, Kei, Yokoji, Mai, Takahashi, Naoki, Amizuka, Norio, Hasegawa, Tomoka, Crozat, Karine, Maekawa, Tomoki, Miyauchi, Sayuri, Matsuda, Yumi, Ida, Takako, Kaku, Masaru, Hoebe, Kasper, Ohno, Kinji, Yoshie, Hiromasa, Yamazaki, Kazuhisa, Moresco, Eva Marie Y., Beutler, Bruce
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5600972/
https://ncbi.nlm.nih.gov/pubmed/28916811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-10343-9
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