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Investigation of LRRK2 G2019S Mutation in the Patients with Sporadic Parkinson's Disease in Turkey
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作者:

Aslan, Huseyin
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h-index: 0
机构:
Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey

Ozkan, Serhat
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机构:
Eskisehir Osmangazi Univ, Med Facult, Dept Neurol, Eskisehir, Turkey Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey

Tepeli, Emre
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机构:
Denizli Pamukkale Univ, Dept Med Genet, Denizli, Turkey Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey

Emre, Ramazan
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机构:
Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey

Kutlay, Ozden
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机构:
Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey

Gurler, Abdullah Ihsan
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机构:
Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey

Uludag, Ahmet
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机构:
Canakkale Onsekiz Mart Univ, Dept Med Genet, Canakkale, Turkey Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey

Muslumanoglu, M. Hamza
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机构:
Yildiz Tech Univ, Fac Sci & Arts, Dept Mol Biol, Istanbul, Turkey Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey
机构:
[1] Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey
[2] Eskisehir Osmangazi Univ, Med Facult, Dept Neurol, Eskisehir, Turkey
[3] Denizli Pamukkale Univ, Dept Med Genet, Denizli, Turkey
[4] Canakkale Onsekiz Mart Univ, Dept Med Genet, Canakkale, Turkey
[5] Yildiz Tech Univ, Fac Sci & Arts, Dept Mol Biol, Istanbul, Turkey
来源:
KONURALP TIP DERGISI
|
2014年
/
6卷
/
01期
关键词:
G2019S;
LRRK2;
Parkinson's disease;
D O I:
暂无
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
Objective: Recently understanding genetic forms and pathogenic mutations has been providing growing knowledges about etiopathogenesis of Parkinson's disease. Leucine-rich repeat kinase 2 gene (LRRK2) G2019S mutation is the most commonly reported mutation amongst autosomal dominant and sporadic Parkinson's disease patients. Aims of our study are to identify the frequency of the LRRK2 G2019S mutation in sporadic late onset Parkinson's disease patients from the Eskisehir, diagnostic utility of this mutation and to confer genetic counselling to the mutation carier patients. Methods: We investigated 83 patients with sporadic Parkinson's disease and 50 normal (healty) controls unrelated to patients. LRRK2 exon 41 was investigated with direct sequencing method. Results: Any point mutation or polymorphism was not detected in the LRRK2 exon 41 amongst patients and control subjects. Conclusion: Our findings suggest that the frequency of LRRK2 G2019S mutation is very lower in Turkish patients with Parkinson's disease.
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页码:1 / 4
页数:4
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