Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia

Congenital tyrosine hydroxylase deficiency (THD) is found in autosomal-recessive Dopa-responsive dystonia and related neurological syndromes. The clinical manifestations of THD are variable, ranging from early-onset lethal disease to mild Parkinson disease-like symptoms appearing in adolescence. Unt...

Descripción completa

Detalles Bibliográficos
Autores principales: Fossbakk, Agnete, Kleppe, Rune, Knappskog, Per M, Martinez, Aurora, Haavik, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312968/
https://www.ncbi.nlm.nih.gov/pubmed/24753243
http://dx.doi.org/10.1002/humu.22565

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312968/
https://www.ncbi.nlm.nih.gov/pubmed/24753243
http://dx.doi.org/10.1002/humu.22565

Ejemplares similares