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Effects of Mutations in Tyrosine Hydroxylase Associated With Progressive Dystonia on the Activity and Stability of the Protein
Tyrosine hydroxylase (TyrH) catalyzes the conversion of tyrosine to dihydroxyphenylalanine (DOPA), the rate-limiting step in the biosynthesis of dopamine. Four mutations in the TyrH gene have recently been described in cases of autosomal recessive DOPA-responsive dystonia (Swaans et al., Ann Hum Gen...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2005
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1945158/ https://ncbi.nlm.nih.gov/pubmed/15468323 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/prot.20293 |
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