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Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency

โœ Scribed by T. Fukao; S. Yamaguchi; H. Nagasawa; M. Kano; T. Orii; Y. Fujiki; T. Osumi; T. Hashimoto

Publisher
Springer
Year
1990
Tongue
English
Weight
493 KB
Volume
13
Category
Article
ISSN
0141-8955

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Identification of TaqI polymorphism in t
Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency
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

Molecular basis of ฮฒ-ketothiolase defici
Molecular basis of ฮฒ-ketothiolase deficiency: Mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme a thiolase gene
โœ Toshiyuki Fukao; Seiji Yamaguchi; Tadao Orii; Takashi Hashimoto ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 669 KB

Communicated by R. G. H. Cotton P-Ketothiolase deficiency is a deficiency in mitochondrial acetoacetyl-CoA thiolase (T2). We present here an update on mutations and polymorphisms in the human T 2 gene. N o large deletion or insertion has been observed in Southern blot analysis. Seventeen mutations w