JASReference:Wakamatsu N:Hayashi M:Kawai H:Kondo H:Gotoda Y:Nishida Y:Kondo R:Tsuji S:Matsumoto T:,J Neurol Neurosurg Psychiatry,1999,67,195

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Title Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism
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Journal Journal of Neurology Neurosurgery and Psychiatry     
(1 pages)
Year 1999
Volume 67
Page 195

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/583/G-T E195X exon3 Mut/codon162/G-T E162X exon3 This page


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このデータベースは日本動脈硬化学会 脂質代謝部会が作成しています。入力等に協力していただける方は有田 arita AT k.u-tokyo.ac.jp までご連絡下さい。

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