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Article

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.

BMC medical genetics - 8 Oct 2013

van Meel Eline, Wegner Daniel J, Cliften Paul, Willing Marcia C, White Frances V, Kornfeld Stuart, Cole F Sessions

Abstract excerpt

BACKGROUND: Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to its cognate transfer RNA and therefore plays an essential role in protein biosynthesis. METHODS: 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...

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Identifiers

PMID: 24103465
DOI: 10.1186/1471-2350-14-106
PMCID: PMC3852179

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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