کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1922555 | 1048813 | 2008 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Parkin analysis in early onset Parkinson's disease
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Parkin analysis in early onset Parkinson's disease Parkin analysis in early onset Parkinson's disease](/preview/png/1922555.png)
چکیده انگلیسی
We analysed the parkin gene in a large consecutive series (146) of unrelated early onset Parkinson's disease (onset ⩽40 years of age) patients. Twelve cases (8.2%) had homozygous or compound heterozygous point mutations and/or exon rearrangements, while a single mutation was found in four subjects (2.7%). We identified eight exon rearrangements and nine point mutations, two of which were novel: c.735delT (p.C212/X224) and c.815C>G (p.C238W). Genotype–phenotype correlation revealed that parkin carriers had features similar to those of non-carrier early onset Parkinson disease patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Parkinsonism & Related Disorders - Volume 14, Issue 4, May 2008, Pages 326–333
Journal: Parkinsonism & Related Disorders - Volume 14, Issue 4, May 2008, Pages 326–333
نویسندگان
Francesca Sironi, Paola Primignani, Michela Zini, Sara Tunesi, Claudio Ruffmann, Sara Ricca, Tiziana Brambilla, Angelo Antonini, Silvana Tesei, Margherita Canesi, Anna Zecchinelli, Claudio Mariani, Nicoletta Meucci, Giorgio Sacilotto, Roberto Cilia,