Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities
Sign Up to like & getrecommendations! Published in 2018 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy290
Abstract: &NA; Aminoacyl‐tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified… read more here.
Keywords: alleles patients; patients cmt2n; disease; hypermorphic hypomorphic ... See more keywords