Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency

Molecular Genetics and Metabolism

Volumn 89, Issue 4, 2006, Pages 323-331

  Isackson, Paul J ^a   Bennett, Michael J ^b   Vladutiu, Georgirene D ^a  

^a UNIVERSITY AT BUFFALO   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Carnitine palmitoyltransferase deficiency; Fatty acid oxidation; Mutation; Sequence; Skeletal muscle

Indexed keywords

ACYLCARNITINE; CARNITINE ACYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE 2; ENZYME; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; COHORT ANALYSIS; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CARNITINE O-PALMITOYLTRANSFERASE; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; LIPID METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN CONFORMATION;

EID: 33750624816     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.08.004     Document Type: Article

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