کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4345753 | 1296753 | 2010 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
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چکیده انگلیسی
A recent study has shown that FBXO7 is a causative gene for PARK15-linked autosomal recessive early-onset Parkinsonism which was described by Davison for the first time in 1954 and known as Pallido-Pyramidal Disease or Parkinsonia-Pyramidal Syndrome in the past. In order to investigate the characteristics of FBXO7 gene mutations in Chinese early-onset Parkinsonism patients, we performed polymerase chain reaction and DNA direct sequencing on 135 patients and 200 controls. In this study, we found 10 polymorphisms including two novel polymorphisms (−274G → C, c.A155G), but no pathogenetic mutations in the FBXO7 gene were detected. This suggests that FBXO7 mutations may be rare in Chinese early-onset Parkinsonism patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience Letters - Volume 482, Issue 2, 27 September 2010, Pages 86–89
Journal: Neuroscience Letters - Volume 482, Issue 2, 27 September 2010, Pages 86–89
نویسندگان
Lin-zi Luo, Qian Xu, Ji-feng Guo, Lei Wang, Chang-he Shi, Jiao-hua Wei, Zhi-gao Long, Qian Pan, Bei-sha Tang, Kun Xia, Xin-xiang Yan,