کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1922769 | 1048835 | 2006 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Parkin mutations in familial and sporadic Parkinson's disease among Indians
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
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چکیده انگلیسی
We observed a mutation frequency of 8.5% in Parkin gene among Indian PD patients based on sequencing and gene dosage analysis of its exons. We identified nine point mutations of which seven are novel and hitherto unreported. These mutations accounted for 14.3% familial PD, 6.9% young onset and 5.9% late onset sporadic PD. Of the 20 PD patients with mutations only two had homozygous mutations and one was a compound heterozygote. Homozygous exonic deletions were absent but heterozygous exon rearrangements were observed in 9.2% of patients (19% familial PD and 4.5% young onset sporadic PD).
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Parkinsonism & Related Disorders - Volume 12, Issue 4, May 2006, Pages 239–245
Journal: Parkinsonism & Related Disorders - Volume 12, Issue 4, May 2006, Pages 239–245
نویسندگان
Shashi Chaudhary, Madhuri Behari, Maninder Dihana, Pazhayannur V. Swaminath, Shyla T. Govindappa, Sachi Jayaram, Vinay Goyal, Arindam Maitra, Uday B. Muthane, R.C. Juyal, B.K. Thelma,