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

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

Wakamatsu, N.; Hayashi, M.; Kawai, H.; Kondo, H.; Gotoda, Y.; Nishida, Y.; Kondo, R.; Tsuji, S.; Matsumoto, T.
  • 期刊名称Journal of Neurology, Neurosurgery & Psychiatry
  • 作者Wakamatsu, N.; Hayashi, M.; Kawai, H.; Kondo, H.; Gotoda, Y.; Nishida, Y.; Kondo, R.; Tsuji, S.; Matsumoto, T.
  • 卷第67卷
  • 期第2期
  • 印刷ISSN0022-3050
  • 文件大小154.69KB
  • 发表时间1999-08-01
  • DOI10.1136/jnnp.67.2.195
  • 页码195-198
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