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 β-ketothiolase deficiency

✍ Scribed by Toshiyuki Fukao; Xiang-Qian Song; Seiji Yamaguchi; Naomi Kondo; Tadao Orii; Jean-Marie Matthieu; Claude Bachmann; Takashi Hashimoto

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 104 KB
• Volume: 9
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1997)9:3<277::aid-humu11>3.0.co;2-#