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H-BRS Bibliography
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Departments, institutes and facilities
Fachbereich Angewandte Naturwissenschaften
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Institut für funktionale Gen-Analytik (IFGA)
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Document Type
Article
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Year of publication
2016
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Language
English
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Keywords
Aminoacylase 1 (1)
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Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia
(2016)
Sass, Jörn Oliver
;
Vaithilingam, Jathana
;
Gemperle-Britschgi, Corinne
;
Delnooz, Cathérine C. S.
;
Kluijtmans, Leo A. J.
;
van de Warrenburg, Bart P. C.
;
Wevers, Ron A.
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