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

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

• Book ID: 123125492
• Publisher: Elsevier Science
• Year: 2013
• Tongue: English
• Weight: 519 KB
• Volume: 110
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2013.07.004