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Article

Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.

Journal of neural transmission (Vienna, Austria : 1996) - 1 Nov 2012

Naiya Tufan, Misra Amar K, Biswas Arindam, Das Shyamal K, Ray Kunal, Ray Jharna

Abstract excerpt

The aim of this study is to examine the role of GCH1 among Indians affected with dopa responsive dystonia (DRD) and early onset Parkinson's disease (EOPD). The patients (n = 76 including 19 DRD and 36 EOPD) and controls (n = 138) were screened for variants in GCH1 by PCR amplification of exons, splice junctions and 1 kb upstream region followed by SSCP and DNA sequencing. Four novel variants (p.Met1Val,...

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Identifiers

PMID: 22373569
DOI: 10.1007/s00702-012-0777-z

Genes

GCH1

Variants

Provenance

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