A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes dopa‐responsive dystonia in Chinese Han population-Reference-Cited by-同舟云学术

A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes dopa‐responsive dystonia in Chinese Han population

Published:2011-01-17 Issue:2 Volume:18 Page:362-364
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:European Journal of Neurology

Author:

Hu F.‐Y.¹²,Xu Y.‐M.¹,Yu L.‐H.¹,Ma M.‐Y.³,He X.‐H.¹,Zhou D.¹

Affiliation:

1. Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province

2. Department of Neurology, Renmin Hospital, Yunyang Medical College, Shiyan, Hubei Province, China

3. Department of Medical Genetics, West China Hospital and State Key Laboratory of Biotherapy, Sichuan University, Chengdu, Sichuan Province, China

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1468-1331.2010.03082.x

Reference14 articles.

1. Childhood basal ganglia disease with remarkable response to L‐Dopa, hereditary basal ganglia disease with marked diurnal fluctuation;Segawa M;Shinryo (Tokyo),1971

2. Dopa‐responsive dystonia;Nygaard TG;Adv Neurol,1988

3. Update on dopa‐responsive dystonia: locus heterogeneity and biochemical features;Furukawa Y;Adv Neurol,2004

4. Dopa-responsive dystonia: A clinical and molecular genetic study

5. Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa

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