Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature-Reference-Cited by-同舟云学术

Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature

Published:2022-02 Issue:2 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Upadia Jariya¹²^ORCID,Li Yuwen¹²,Walano Nicolette¹²,Deputy Stephen³,Gajewski Kelly⁴,Andersson Hans C.¹²

Affiliation:

1. Hayward Genetics Center Tulane University School of Medicine New Orleans Louisiana USA

2. Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana USA

3. Division of Pediatric Neurology Department of Pediatrics Louisiana State University Health Sciences Center/Children's Hospital New Orleans Louisiana USA

4. Division of Pediatric Cardiology Department of Pediatrics Louisiana State University Health Sciences Center/Children's Hospital New Orleans Louisiana USA

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.5401

Reference33 articles.

1. Mechanism of protein biosynthesis in mammalian mitochondria

2. tRNA gene diversity in the three domains of life

3. Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA Leu(UUR) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes

4. The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

5. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

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