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A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

โœ Scribed by Toshiyuki Fukao; Hoan Thi Nguyen; Nhan Thu Nguyen; Dung Chi Vu; Ngoc Thi Bich Can; Anh Thi Van Pham; Khanh Ngoc Nguyen; Hironori Kobayashi; Yuki Hasegawa; Thao Phuong Bui; Kary E. Niezen-Koning; Ronald J.A. Wanders; Tom de Koning; Liem Thanh Nguyen; Seiji Yamaguchi; Naomi Kondo


Book ID
116988942
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
369 KB
Volume
100
Category
Article
ISSN
1096-7192

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Characterization of N93S, I312T, and A33
โœ Toshiyuki Fukao; Haruki Nakamura; Xiang-Qian Song; Kozue Nakamura; Kenji E. Orii ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 976 KB

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of ketone body and isoleucine catabolisms. Japanese patients, GK01 and GK19, were found to be compound heterozygotes of 149delC and A333P, and N93S and I312T, respectively. The latter three missense mutations were individually