A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

Molecular Genetics and Metabolism

Volumn 79, Issue 2, 2003, Pages 124-128

  Deschauer, Marcus ^a,b   Chrzanowska Lightowlers, Zofia M A ^b   Biekmann, Eckhard ^c   Pourfarzam, Morteza ^b   Taylor, Robert W ^b   Turnbull, Douglass M ^b   Zierz, Stephan ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Carnitine palmitoyltransferase II deficiency; Molecular analysis; Splice junction mutation

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; MUSCLE ENZYME;

ADULT; ADULTHOOD; ALLELE; ARTICLE; BIOCHEMISTRY; CASE REPORT; ENZYME DEFICIENCY; EXON; FIBROBLAST CULTURE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MALE; MUSCLE; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYALGIA; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0038278499     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00067-2     Document Type: Article

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