Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism
Document Type: | Article |
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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 |