Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals

Journal of Human Genetics

Volumn 58, Issue 12, 2013, Pages 788-793

  Fukushima, Takao ^a   Kaneoka, Hidetoshi ^a,b   Yasuno, Tetsuhiko ^a   Sasaguri, Yukari ^b   Tokuyasu, Tomoko ^b   Tokoro, Kuniko ^c   Fukao, Toshiyuki ^d   Saito, Takao ^a  

^a FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b FUKUOKA UNIVERSITY   (Japan)

^c GIFU PREFECTURAL GIFU HOSPITAL   (Japan)

^d GIFU UNIVERSITY   (Japan)

Author keywords

oxidation; CACT deficiency; Carnitine acylcarnitine translocase (CACT); CPT2 deficiency; Denaturing high performance liquid chromatography (DHPLC); Rhabdomyolysis

Indexed keywords

ACYLCARNITINE; ACYLCARNITINE CARNITINE TRANSLOCASE; CREATINE KINASE; ENZYME; GENOMIC DNA; UNCLASSIFIED DRUG;

AGED; ARTICLE; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CASE REPORT; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERTENSION; MALE; RHABDOMYOLYSIS; TANDEM MASS SPECTROMETRY;

ADULT; CARNITINE ACYLTRANSFERASES; CARNITINE O-PALMITOYLTRANSFERASE; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; LIPID METABOLISM, INBORN ERRORS; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MUTATION;

EID: 84890953463     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.103     Document Type: Article

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