A novel mutation(c. 951C> T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
A novel mutation(c. 951C> T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
复制标题
外显子剪接增强子中的新突变（c.951C> T）导致人线粒体乙酰乙酰辅酶A硫解酶基因中外显子 10 跳跃。
作者：
Fukao T;Horikawa R;Naiki Y;Tanaka T;Takayanagi M;Yamaguchi S;Kondo N
