An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS-Reference-Cited by-同舟云学术

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

Published:2017-12-11 Issue:12 Volume:8 Page:381
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Tracewska-Siemiątkowska Anna,Haer-Wigman Lonneke,Bosch Danielle,Nickerson Deborah,Bamshad Michael,van de Vorst Maartje,Rendtorff Nanna,Möller Claes,Kjellström Ulrika,Andréasson Sten,Cremers Frans,Tranebjærg Lisbeth,

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Link

http://www.mdpi.com/2073-4425/8/12/381/pdf

Reference21 articles.

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2. Aminoacyl tRNA synthetases and their connections to disease

3. Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

4. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

5. A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene

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4. Predictive modeling provides insight into the clinical heterogeneity associated withTARS1loss-of-function mutations;2024-03-27

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