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3-Ketothiolase deficiency: Heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients

โœ Scribed by H. Nagasawa; S. Yamaguchi; T. Orii; R. B. H. Schutgens; L. Sweetman; T. Hashimoto


Publisher
Springer
Year
1989
Tongue
English
Weight
409 KB
Volume
12
Category
Article
ISSN
0141-8955

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Identification of TaqI polymorphism in t
โœ Takashi Kuwahara; Toshiyuki Fukao; Masatsugu Kano; Seiji Yamaguchi; Tadao Orii; ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 455 KB

We analyzed the mitochondrial acetoacetyl-CoA thiolase gene (T2) by Southern blotting. Fifteen unrelated healthy individuals and members of five families with 3-ketothiolase deficiency (3KTD) were analyzed. We found a TaqI polymorphism, the heterozygosity of which was calculated to be 0.5 among heal