Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda

X-linked spondyloepiphyseal dysplasia tarda can be caused by mutations in the SEDL gene. This study describes an interesting novel mutation (IVS4+1A>G) located exactly at the rare noncanonical AT–AC consensus splicing donor point of SEDL, which regained the canonical GT–AG consensus splicing junc...

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Autori principali: Xiong, Feng, Gao, Jianjun, Li, Jun, Liu, Yun, Feng, Guoyin, Fang, Wenli, Chang, Hongfen, Xie, Jiang, Zheng, Haitao, Li, Tingyu, He, Lin
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986207/
https://ncbi.nlm.nih.gov/pubmed/19002213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.219
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