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IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TH

Definition : Molecular assay reagents intended to identify mutations in the tyrosine hydroxylase (TH) gene, located in 11p15.5 which encodes for a protein which is involved in the conversion of tyrosine to dihydroxyphenylalanine (DOPA). This inherited genetic mutation has been identified in patients with autosomal recessive Segawa syndrome, a DOPA responsive dystonia.

Entry Terms : "Tyrosine Hydroxylase (TH) Deficiency Dystonia Gene Mutation Reagents" , "Segawa Disease, Recessive Gene Mutation Reagents" , "Hereditary Progressive Dystonia Gene Mutation Reagents" , "Dystonia-Parkinsonism Gene Mutation Reagents" , "Dopa Responsive Dystonia (DRD) Gene Mutation Reagents" , "Dystonia Type 5 (DYT5) Gene Mutation Reagents" , "TH Gene Mutatino Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TH"

UMDC code : 24993

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