The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease.
作者信息
Gutti Usha, Fung Hon-Chung, Hruska Kathleen S, Lamarca Mary E, Chen Chiung-Mei, Wu Yih-Ru, Sidransky Ellen
出版信息
Arch Neurol. 2008 Jun;65(6):850-1; author reply 851. doi: 10.1001/archneur.65.6.850.
Abstract
摘要
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The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease.帕金森病队列中针对葡萄糖脑苷脂酶突变的适当基因分型策略的必要性。
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Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.葡萄糖脑苷脂酶基因突变与早发性帕金森病相关。
Neurology. 2007 Sep 18;69(12):1270-7. doi: 10.1212/01.wnl.0000276989.17578.02.
2
Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese.葡萄糖脑苷脂酶基因突变是台湾人帕金森病早发的一个风险因素。
J Neurol Neurosurg Psychiatry. 2007 Sep;78(9):977-9. doi: 10.1136/jnnp.2006.105940.
3
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.中国患者中葡萄糖脑苷脂酶突变与帕金森病风险
Arch Neurol. 2007 Jul;64(7):1056-8. doi: 10.1001/archneur.64.7.1056.
4
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.来自中国台湾地区散发性帕金森病患者的葡萄糖脑苷脂酶突变
Mol Genet Metab. 2007 Jun;91(2):195-200. doi: 10.1016/j.ymgme.2007.03.004. Epub 2007 Apr 25.
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Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.台湾戈谢病患者的突变分析：RecNciI和L444P突变的高发生率
Blood Cells Mol Dis. 2006 May-Jun;36(3):422-5. doi: 10.1016/j.bcmd.2006.02.001. Epub 2006 Mar 20.
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Glucocerebrosidase mutations in subjects with parkinsonism.帕金森综合征患者中的葡萄糖脑苷脂酶突变
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