Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein

Biochimica et Biophysica Acta (BBA)/Lipids and Lipid Metabolism

Volumn 1215, Issue 3, 1994, Pages 347-350

  IJlst, Lodewijk ^a   Wanders, Ronald J A ^a   Ushikubo, Sciichi ^b   Kamijo, Takehiko ^b   Hashimoto, Takashi ^b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

3 Hydroxyacyl CoA dehydrogenase; Fatty acid; Hereditary disease

Indexed keywords

LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; ENZYME DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; MITOCHONDRION; MUTATION; PRIORITY JOURNAL;

3-HYDROXYACYL COA DEHYDROGENASES; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA, COMPLEMENTARY; FATTY ACIDS; HUMAN; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ALIGNMENT;

EID: 0028597508     PISSN: 00052760     EISSN: None     Source Type: Journal    
DOI: 10.1016/0005-2760(94)90064-7     Document Type: Article

References (25)