一个患有脑腱黄瘤病的台湾家庭中固醇27-羟化酶基因（CYP27A1）的突变。 - Suppr

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超能文献

Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.

作者信息

Lee Ming-Jen, Huang Yuan-Chung, Sweeney Mary G, Wood Nicholas W, Reilly Mary M, Yip Ping-Keung

出版信息

J Neurol. 2002 Sep;249(9):1311-2. doi: 10.1007/s00415-002-0762-9.

DOI:10.1007/s00415-002-0762-9

PMID:12242561

Abstract

摘要

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Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.一个患有脑腱黄瘤病的台湾家庭中固醇27-羟化酶基因（CYP27A1）的突变。

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J Lipid Res. 2001 Feb;42(2):159-69.

Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.脑腱性黄瘤病患者脑部的磁共振成像及波谱变化

Brain. 2001 Jan;124(Pt 1):121-31. doi: 10.1093/brain/124.1.121.

Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients.脑腱黄瘤病。关于神经和肌肉的争议：对10例患者的观察

Neuromuscul Disord. 2000 Aug;10(6):407-14. doi: 10.1016/s0960-8966(00)00112-7.

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.脑腱黄瘤病患者的临床和分子遗传学特征

Brain. 2000 May;123 ( Pt 5):908-19. doi: 10.1093/brain/123.5.908.

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J Neurol Neurosurg Psychiatry. 1999 Nov;67(5):675-7. doi: 10.1136/jnnp.67.5.675.

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.由固醇27 - 羟化酶基因的两个新突变导致的脑腱黄瘤病，这些突变破坏了mRNA剪接。

J Lipid Res. 1996 Jul;37(7):1459-67.

Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.固醇27-羟化酶基因中的移码突变和剪接连接突变导致犹太裔或摩洛哥裔人群患脑腱黄瘤病。

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