(Q73196790)
Statements
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency (English)
Fukao T
Song XQ
Yamaguchi S
Kondo N
Orii T
Matthieu JM
Bachmann C