Erratum: Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 33 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0885-3185
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β¦ Synopsis
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π SIMILAR VOLUMES
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
## Abstract A 2βyearβold boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27βq28 including deletion of FMRβ1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2(11): 1973β1974] and the deletio