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Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

✍ Scribed by Aida Ormazabal; Mercedes Serrano; Angels Garcia-Cazorla; Jaume Campistol; Rafael Artuch; Pedro Castro de Castro; Estíbaliz Barredo-Valderrama; Judith Armstrong; Claudio Toma; Bru Cormand


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
676 KB
Volume
26
Category
Article
ISSN
0885-3185

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A rare novel deletion of the tyrosine hy
✍ Güney Bademci; Todd L. Edwards; Andre L. Torres; William K. Scott; Stephan Züchn 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 265 KB

Tyrosine hydroxylase (TH) enzyme is a rate limiting enzyme in dopamine biosynthesis. Missense mutation in both alleles of the __TH__ gene is known to cause dopamine-related phenotypes, including dystonia and infantile Parkinsonism. However, it is not clear if single allele mutation in __TH__ modifie