Keiko Murase

发表

A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene

T. Fukao, N. Kondo, P. Kursula, 2010, Journal of Inherited Metabolic Disease.

Molecular Basis of Two‐Exon Skipping (Exons 12 and 13) by c.1248+5g>a in OXCT1 Gene: Study on Intermediates of OXCT1 Transcripts in Fibroblasts

C. Harding, T. Fukao, N. Kondo, 2013, Human mutation.

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.

R. Wierenga, T. Fukao, N. Kondo, 2013, Molecular genetics and metabolism.