Molecular basis of 3-ketothiolase deficiency: Detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase
โ Scribed by T. Fukao; S. Yamaguchi; A. Wakazono; H. Okamoto; T. Orii; T. Osumi; T. Hashimoto
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 592 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0141-8955
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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
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