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
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب (عمومی)
پیش نمایش صفحه اول مقاله
FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients
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
نویسندگان
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