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Title of Journal: J Neural Transm

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Abbravation: Journal of Neural Transmission

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Publisher

Springer Vienna

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DOI

10.1007/bf00944713

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1435-1463

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Screening of two indel polymorphisms in the 5′UTR

Authors: Brigitte Glanzmann Debbie Lombard Jonathan Carr Soraya Bardien
Publish Date: 2013/09/20
Volume: 121, Issue: 2, Pages: 135-138
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Abstract

Mutations in the DJ1 gene have been implicated in earlyonset Parkinson’s disease PD Two indel variants g168 185del and g6 +10del in the 5′UTR of DJ1 have been described Genotyping of both variants in 402 South African PD patients of various ethnicities and 528 ethnically matched controls revealed that they are rare in the South African population Further studies on these variants in other populations are warranted given their possible role in transcriptional regulation and DJ1s critical role in alleviating oxidative stressWe thank the study participants for their participation in the study and the Western Province Blood Transfusion Service for assistance with recruitment of controls This work is supported by the South African Medical Research Council the Harry Crossley Foundation and Stellenbosch University BG is supported by a National Research Foundation Innovation Doctoral Scholarship

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