Aminoacyl-tRNA synthetase deficiencies in search of common themes
Aminoacyl-tRNA synthetase deficiencies in search of common themes
About this item
Full title
Author / Creator
Fuchs, Sabine A. , Schene, Imre F. , Kok, Gautam , Jansen, Jurriaan M. , Nikkels, Peter G. J. , van Gassen, Koen L. I. , Terheggen-Lagro, Suzanne W. J. , van der Crabben, Saskia N. , Hoeks, Sanne E. , Niers, Laetitia E. M. , Wolf, Nicole I. , de Vries, Maaike C. , Koolen, David A. , Houwen, Roderick H. J. , Mulder, Margot F. and van Hasselt, Peter M.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Pathogenic variations in genes encoding aminoacyl-tRNA synthetases (ARSs) are increasingly associated with human disease. Clinical features of autosomal recessive ARS deficiencies appear very diverse and without apparent logic. We searched for common clinical patterns to improve disease recognition, insight into pathophysiology, and clin...
Alternative Titles
Full title
Aminoacyl-tRNA synthetase deficiencies in search of common themes
Authors, Artists and Contributors
Author / Creator
Schene, Imre F.
Kok, Gautam
Jansen, Jurriaan M.
Nikkels, Peter G. J.
van Gassen, Koen L. I.
Terheggen-Lagro, Suzanne W. J.
van der Crabben, Saskia N.
Hoeks, Sanne E.
Niers, Laetitia E. M.
Wolf, Nicole I.
de Vries, Maaike C.
Koolen, David A.
Houwen, Roderick H. J.
Mulder, Margot F.
van Hasselt, Peter M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7091658
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7091658
Other Identifiers
ISSN
1098-3600,1530-0366
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0048-y
