(Q33979681)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15241655%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15241655%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

1 reference

2

1 reference

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30 December 2019

author name string

Daniela Steinberger

1

1 reference

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30 December 2019

Dimitri Goriuonov

3

1 reference

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30 December 2019

Juliane Bitsch

4

1 reference

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30 December 2019

Michael Zuker

5

1 reference

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30 December 2019

Sibylla Hummel

6

1 reference

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30 December 2019

Ulrich Müller

7

1 reference

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30 December 2019

publication date

6 July 2004

1 reference

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30 December 2019

1 reference

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30 December 2019

volume

5

1 reference

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30 December 2019

issue

3

1 reference

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30 December 2019

page(s)

187-190

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10048-004-0182-3

30 December 2019

exact match

0 references

cites work

Clinical and molecular genetics of primary dystonias

1 reference

12 December 2020

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

1 reference

12 December 2020

Genomic organization and chromosomal localization of the human sepiapterin reductase gene

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

Tetrahydrobiopterin biosynthesis, regeneration and functions

1 reference

12 December 2020

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

1 reference

12 December 2020

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism

1 reference

12 December 2020

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

1 reference

12 December 2020

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

1 reference

12 December 2020

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

1 reference

12 December 2020

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

1 reference

12 December 2020