Concepedia

Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion

YG Weber, Daniela Steinberger, Günther Deuschl, R. Benecke, Ulrich Müller

Neurogenetics · 1997 · 15 citations · 4 references

DOI

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References

4

Dopa-responsive dystonia

2012 · 187 citations

, , +17

Dopa-responsive dystonia in British patients: new mutations of the GTP- cyclohydrolase I gene and evidence for genetic heterogeneity

Oliver Bandmann · Human Molecular Genetics · 1996 · 113 citations · Full text

, , +13

Exon Skipping Caused by a Base Substitution at a Splice Site in the GTP Cyclohydrolase I Gene in a Japanese Family with Hereditary Progressive Dystonia/DOPA-Responsive Dystonia

Makito Hirano, Yoshiko Tamaru, Yayoi Nagai et al. · Biochemical and Biophysical Research Communications · 1995 · 48 citations

, , +13

Mutant GTP cyclohydrolase I mRNA levels contribute to dopa‐responsive dystonia onset

Makito Hirano, Yoshiko Tamaru, Hidefumi Ito et al. · Annals of Neurology · 1996 · 38 citations

, , +15