Associated Papers
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Abdelkreem E et al.
Human Mutation, 2019
Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons.
Nakama M et al.
Gene, 2018
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
Otsuka H et al.
Molecular Medicine Reports, 2016
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