Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Toshiyuki Fukao, Yuka Aoyama, Keiko Murase, Tomohiro Hori, Rajesh K. Harijan, Rikkert K. Wierenga, Avihu Boneh, Naomi Kondo

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