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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Detalles Bibliográficos
Autores principales: Bademci, Güney, Edwards, Todd L, Torres, Andre L, Scott, William K, Züchner, Stephan, Martin, Eden R, Vance, Jeffery M, Wang, Liyong
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:
Mutation in Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025121/
https://www.ncbi.nlm.nih.gov/pubmed/20809526
http://dx.doi.org/10.1002/humu.21351

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