Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

American Journal of Human Genetics

Volumn 61, Issue 6, 1997, Pages 1239-1245

  Huizing, Marjan ^a   Iacobazzi, Vito ^b   Ijlst, Lodewijk ^c   Savelkoul, Paul ^a   Ruitenbeek, Wim ^a   Van Den Heuvel, Lambert ^a   Indiveri, Cesare ^b   Smeitink, Jan ^a   Trijbels, Frans ^a   Wanders, Ronald ^c   Palmieri, Ferdinando ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF BARI   (Italy)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; BUTYRIC ACID; CARNITINE; CARRIER PROTEIN; ENOYL COENZYME A HYDRATASE; MESSENGER RNA; MYRISTIC ACID; OCTANOIC ACID; PALMITIC ACID;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CONTROLLED STUDY; FATTY ACID OXIDATION; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INBORN ERROR OF METABOLISM; MEMBRANE TRANSPORT; MITOCHONDRIAL MEMBRANE; MOLECULAR CLONING; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCHOOL CHILD; SKIN FIBROBLAST; TISSUE DISTRIBUTION;

EID: 17344366560     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301628     Document Type: Article

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