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Article

A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.

Journal of inherited metabolic disease - 1 Jun 2001

Skrygan M, Bartholomé B, Bonafé L, Blau N, Bartholomé K

Abstract excerpt

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 from the father to the daughter and son. Examination of the mRNA...

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Identifiers

PMID: 11486899
DOI: 10.1023/a:1010544316387

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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