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Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism

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Metadaten
Document Type:Article
Language:English
Author:Jörn Oliver Sass, Verena Mohr, Heike Olbrich, Udo Engelke, Judit Horvath, Manfred Fliegauf, Niki Tomas Loges, Susanne Schweitzer-Krantz, Ralf Moebus, Polly Weiler, Andreas Kispert, Andrea Superti-Furga, Ron A. Wevers, Heymut Omran
Parent Title (English):The American Journal of Human Genetics
Volume:78
Issue:3
First Page:401
Last Page:409
ISSN:0002-9297
DOI:https://doi.org/10.1086/500563
PMID:https://pubmed.ncbi.nlm.nih.gov/16465618
Publisher:American Society of Human Genetics
Date of first publication:2006/01/18
Departments, institutes and facilities:Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2018/08/18