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