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  • Molecular assay reagents intended to identify mutations in the guanosine triphosphate cyclohydrolase 1 (GCH1) gene, located at chromosome 14q22.1-q22.2, which encodes for the enzyme guanosine triphosphate (GTP) cyclohydrolase, important in the manufacture of tetrahydrobiopterin (BH4). BH4 is essential for the normal function of several enzymes. Mutations at this locus have been identified in more than half of patients with early childhood onset of a severe form of dystonia type 5 (DYT5).
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