Journal
ANNALS OF HUMAN GENETICS
Volume 64, Issue -, Pages 25-31Publisher
CAMBRIDGE UNIV PRESS
DOI: 10.1046/j.1469-1809.2000.6410025.x
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Mutation detection in the Tyrosine Hydroxylase gene (TH) was performed in patients from two families. DNA sequencing revealed the presence of foul novel missense mutations (exon 9 and 14 in family A, exon 8 and 9 in family B); the mutations were confirmed with restriction enzyme analysis, and did not occur in control alleles. Three mutations are in the catalytic domain of the enzyme and one ma disturb tetramerization, At the moment, all patients are in the fourth decade of life. For more than 30 years they have been able to live a normal life with low-dose L-DOPA medication.
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