TH mutations in dopa-responsiv dystonia

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Tyrosine hydroxylase (TH) catalyze the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-dopa), the rate-limiting step in the biosynthesis of the catecholamines dopamine, norepinephrine and epinephrine. We have developed a mutation screening method using denaturing gradient gel electrophoresis (DGGE) for rapid analysis for mutations in the coding sequence of the TH gene. We have identified the mutations in 9 p…

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