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A Rare Novel Deletion of the Tyrosine Hydroxylase Gene in Parkinson Disease
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 modifies the su...
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| 主要な著者: | , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wiley Subscription Services, Inc., A Wiley Company
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3025121/ https://ncbi.nlm.nih.gov/pubmed/20809526 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21351 |
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