Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
About this item
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Language
English
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Scope and Contents
Contents
Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex which catalyzes the ligation of amino acids to the correct tRNAs. Pathogenic variants in several aminoacyl-tRNA synthetases genes have been linked to various neurological disorders, including leukodystrophies and...
Alternative Titles
Full title
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
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TN_cdi_proquest_miscellaneous_2200767850
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2200767850
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-019-00572-7
