Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism

Journal of Neurology Neurosurgery and Psychiatry

Volumn 67, Issue 2, 1999, Pages 195-198

  Wakamatsu, Nobuaki ^a,e   Hayashi, Masataka ^b   Kawai, Hisaomi ^a   Kondo, Hiroshi ^c   Gotoda, Yasuo ^a   Nishida, Yoshihiko ^a   Kondo, Rui ^c   Tsuji, Shoji ^d   Matsumoto, Toshio ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b National Hospital Organization   (Japan)

^c National Hospital Organization   (Japan)

^d NIIGATA UNIVERSITY   (Japan)

^e INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

Author keywords

Cerebrotendinous xanthomatosis; Missense mutation; Parkinsonism; Premature termination codon

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PARKINSONISM; PRIORITY JOURNAL; STOP CODON; TRANSLATION REGULATION;

EID: 0032774671     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.67.2.195     Document Type: Article

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