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
Assessment of HLA-A, HLA-DR, and HLA-DQ alleles in patients with pemphigus vulgaris from eastern of Turkey.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of cosmetic dermatology"
DOI: 10.1111/jocd.13298
Abstract: BACKGROUND Pemphigus vulgaris (PV) is a chronic progressive autoimmune bullous disease caused by the interaction of pathogenic factors, genetic, and environmental factors. HLA alleles, which are considered as protective factors against disease or predisposing factors,… read more here.
Keywords: pemphigus vulgaris; eastern turkey; alleles patients; hla alleles ... See more keywords