Ontology highlight
ABSTRACT:
SUBMITTER: van Meel E
PROVIDER: S-EPMC3852179 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
van Meel Eline E Wegner Daniel J DJ Cliften Paul P Willing Marcia C MC White Frances V FV Kornfeld Stuart S Cole F Sessions FS
BMC medical genetics 20131008
<h4>Background</h4>Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to its cognate transfer RNA and therefore plays an essential role in protein biosynthesis.<h4>Methods</h4>We used exome sequencing, aminoacylation assays, homology modeling, and immuno-isolation of transfected MARS to identify and characterize mutations in the methionyl-tRNA synthetase gene (MARS) in an infant with an unexplained multi-organ phenotype.<h4>Results</h4>We identified compound heterozygous mutat ...[more]