Article
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.
European journal of human genetics : EJHG - 1 Apr 2009
Xiong Feng, Gao Jianjun, Li Jun, Liu Yun, Feng Guoyin, Fang Wenli, Chang Hongfen, Xie Jiang, Zheng Haitao, Li Tingyu, He Lin
Abstract excerpt
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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