Associated Papers
Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.
Watanabe M et al.
Genes, 2024
Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
Upadia J et al.
Clinical Case Reports, 2022
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia G et al.
Haematologica, 2021
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
32148946 (PubMed )
Supplement: 7054315.f1.pdf
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Vona B et al.
Bmc Medical Genetics, 2018
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Li J et al.
Orphanet Journal of Rare Diseases, 2018
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