Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia
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Title
Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 35, Issue 7, Pages 880-890
Publisher
Wiley
Online
2014-04-22
DOI
10.1002/humu.22565
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Note: Only part of the references are listed.- Mutagenesis of a Specificity-Determining Residue in Tyrosine Hydroxylase Establishes That the Enzyme Is a Robust Phenylalanine Hydroxylase but a Fragile Tyrosine Hydroxylase
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