IDENTIFICATION OF 3 NOVEL FRAMESHIFT MUTATIONS (83DELAT, 754INSCT, AND 435-TO-A) OF MITOCHONDRIAL ACETOACETYL-COENZYME-A THIOLASE GENE IN 2SWISS PATIENTS WITH CRM-NEGATIVE BETA-KETOTHIOLASE DEFICIENCY(1G)
T. Fukao et al., IDENTIFICATION OF 3 NOVEL FRAMESHIFT MUTATIONS (83DELAT, 754INSCT, AND 435-TO-A) OF MITOCHONDRIAL ACETOACETYL-COENZYME-A THIOLASE GENE IN 2SWISS PATIENTS WITH CRM-NEGATIVE BETA-KETOTHIOLASE DEFICIENCY(1G), Human mutation, 9(3), 1997, pp. 277-279