Nurr1 mutational screen in Parkinson's disease

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 C→T variant amon...

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Veröffentlicht in:Movement disorders 2004-12, Vol.19 (12), p.1503-1505
Hauptverfasser: Tan, Eng-King, Chung, Henry, Chandran, Vandana R., Tan, Chris, Shen, Hui, Yew, Kenneth, Pavanni, Ratnagopal, Puvan, Kathi-avelu, Wong, Meng-Cheong, Teoh, Mei-Lin, Yih, Yuan, Zhao, Yi
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Sprache:eng
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Zusammenfassung: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 C→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. © 2004 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.20246