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Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N. A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene. Molecular Genetics and Metabolism. 2010 Aug;100(4):339–44. doi: 10.1016/j.ymgme.2010.03.012. |