Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Item
http://www.wikidata.org/entity/Q27303689
Axonal neuropathy with neuromyotonia: there is a HINT.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Human aminoacyl-tRNA synthetases in diseases of the nervous system.Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.A single Danio rerio hars gene encodes both cytoplasmic and mitochondrial histidyl-tRNA synthetases.The role of tRNA synthetases in neurological and neuromuscular disorders.Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
P2860

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Item
http://www.wikidata.org/entity/Q27303689
description
2015 nî lūn-bûn
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2015 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
@nl
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
@ast
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
@en
type
label
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
@nl
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
@ast
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
@en
prefLabel
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
@nl
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
@ast
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
@en
P1433
P1476
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P3181
P356
P1433
P1476
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
@en
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P50
P577
P5875
P698
P932