Expanding mutation spectrum in CPT II gene: Identification of four novel mutations

Journal of Neurology

Volumn 260, Issue 5, 2013, Pages 1412-1414

  Joshi, Pushpa Raj ^a   Young, Peter ^b   Deschauer, Marcus ^a   Zierz, Stephan ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

ADULT; DEFICIENCY; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; LETTER;

ADULT; CARNITINE O-PALMITOYLTRANSFERASE; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; MALE; METABOLISM, INBORN ERRORS; MIDDLE AGED; MUTATION;

EID: 84891521077     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-6887-1     Document Type: Letter

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