A splice mutation in the GTP cyclohydrolase I gene causes dopa-resposive dystonia by exon skipping
A splice mutation in the GTP cyclohydrolase I gene causes dopa-resposive dystonia by exon skipping
About this item
Full title
Author / Creator
Skrygan, M , Bartholome, B , Bonafe, L , Blau, N and Bartholome, K
Publisher
Dordrecht: Blackwell Publishing Ltd
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Blackwell Publishing Ltd
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Scope and Contents
Contents
Four different mutations in the GTP cyclohydrolase I gene were found (P199L, M211V, IVS5+1G>A, G203R) in 6 out of 33 families with dopa-responsive dystonia. A splice mutation (IVS5+1G>A) located at the border of exon 5 to intron 5 was found in one of these families. Three members of the family carry the IVS5+1G>A mutation on one allele, inherited f...
Alternative Titles
Full title
A splice mutation in the GTP cyclohydrolase I gene causes dopa-resposive dystonia by exon skipping
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_218864356
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_218864356
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
