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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.

Pubmed ID: 
23920042
Year: 
2013
Month: 
JUL
Citation: 
Fukao T, Aoyama Y, Murase K, Hori T, Harijan RK, Wierenga RK, Boneh A, Kondo N. 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. Molecular genetics and metabolism (2013) PubMed