Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

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 three novel disease-associated missense mutations in the ala...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mol Genet
Prif Awduron: Weterman, Marian A J, Kuo, Molly, Kenter, Susan B, Gordillo, Sara, Karjosukarso, Dyah W, Takase, Ryuichi, Bronk, Marieke, Oprescu, Stephanie, van Ruissen, Fred, Witteveen, Ron J W, Bienfait, Henriette M E, Breuning, Martijn, Verhamme, Camiel, Hou, Ya-Ming, de Visser, Marianne, Antonellis, Anthony, Baas, Frank
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2018
Pynciau:
General Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6240730/
https://ncbi.nlm.nih.gov/pubmed/30124830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy290
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