(Q33263894)

24 July 2017

title

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia (English)

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24 July 2017

Daniela Steinberger

1

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24 July 2017

Jutta Trübenbach

2

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24 July 2017

Birgit Zirn

3

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24 July 2017

Barbara Leube

4

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24 July 2017

Gabriele Wildhardt

5

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24 July 2017

Ulrich Müller

6

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24 July 2017

publication date

17 November 2006

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24 July 2017

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24 July 2017

volume

8

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24 July 2017

issue

1

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24 July 2017

page(s)

51-55

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Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

24 July 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-006-0069-6

High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-006-0069-6

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

21 January 2018

1 reference

12 December 2020

Dopa-responsive dystonia

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12 December 2020

Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia

1 reference

12 December 2020

Mutations of GCH1 in Dopa-responsive dystonia

1 reference

12 December 2020

Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia

1 reference

12 December 2020

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.

1 reference

12 December 2020

Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family

1 reference

12 December 2020

Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.

1 reference

12 December 2020

Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group

1 reference

12 December 2020

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

12 December 2020

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

1 reference

12 December 2020

10.1007/S10048-006-0069-6

Identifiers

DOI

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24 July 2017

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