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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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✦ Synopsis


The publisher regrets the error.


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A rare novel deletion of the tyrosine hy
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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

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## Abstract A 2‐year‐old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27‐q28 including deletion of FMR‐1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2(11): 1973–1974] and the deletio