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Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts

✍ Scribed by O. Søvik; J. -M. Saudubray; A. Munnich; L. Sweetman


Book ID
105574176
Publisher
Springer
Year
1992
Tongue
English
Weight
200 KB
Volume
15
Category
Article
ISSN
0141-8955

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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