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Nurr1 mutational screen in Parkinson's disease

✍ Scribed by Eng-King Tan; Henry Chung; Vandana R. Chandran; Chris Tan; Hui Shen; Kenneth Yew; Ratnagopal Pavanni; Kathi-avelu Puvan; Meng-Cheong Wong; Mei-Lin Teoh; Yuan Yih; Yi Zhao

Book ID
102503271
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
59 KB
Volume
19
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

We performed sequence analysis of all the exons and exon–intron boundaries in familial and young‐onset Parkinson's disease (PD) in an Asian cohort. None of the patients carried any pathogenic mutations in the Nurr1 gene. We demonstrated a 5 to 10% prevalence of the intron 7 +33 Cβ†’T variant among Malay and Indian PD and healthy controls, suggesting that this variant, which was previously described only in 1 Chinese patient, was not a silent mutation but a common polymorphic variant in some ethnic races. Β© 2004 Movement Disorder Society

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