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...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Mutat
Auteurs principaux: Fossbakk, Agnete, Kleppe, Rune, Knappskog, Per M, Martinez, Aurora, Haavik, Jan
Format: Artigo
Langue:Inglês
Publié: BlackWell Publishing Ltd 2014
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4312968/
https://ncbi.nlm.nih.gov/pubmed/24753243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22565
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