Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene

Molecular Genetics and Metabolism

Volumn 92, Issue 3, 2007, Pages 216-221

  Fukao, Toshiyuki ^a   Kursula, Petri ^b   Owen, Elizabeth Patricia ^c   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b UNIVERSITY OF OULU   (Finland)

^c Medical School   (South Africa)

Author keywords

Ketoacidosis; Ketolysis; Ketone; Mutation; SCOT; Succinyl CoA:3 ketoacid CoA transferase

Indexed keywords

3 OXOACID COENZYME A TRANSFERASE; COENZYME A; COMPLEMENTARY DNA; GENOMIC DNA; MUTANT PROTEIN; SCOT ENZYME; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FIBROBLAST; GENE IDENTIFICATION; GENE MUTATION; GENETIC CONSERVATION; GENETIC TRAIT; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STABILITY; PROTEIN STRUCTURE; TEMPERATURE SENSITIVITY;

ACYL COENZYME A; COENZYME A-TRANSFERASES; DNA, COMPLEMENTARY; FIBROBLASTS; HEAT; HUMANS; POINT MUTATION; TRANSFECTION;

EID: 34848909572     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.07.005     Document Type: Article

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