Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome-Reference-Cited by-同舟云学术

Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome

Published:2021-03-10 Issue:4 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Zhou Yi¹^ORCID,Zhong Cheng¹,Yang Qin¹,Zhang Gaofu¹²³,Yang Haiping¹²³,Li Qiu¹²³,Wang Mo¹²³^ORCID

Affiliation:

1. Department of Nephrology Children’s HospitalChongqing Medical University Chongqing China

2. Ministry of Education Key Laboratory of Child Development and Disorders National Clinical Research Center for Child Health and Disorders China International Science and Technology Cooperation base of Child development and Critical Disorders Children’s Hospital of Chongqing Medical University Chongqing P.R. China

3. Chongqing Key Laboratory of Pediatrics Chongqing P.R. China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1650

Reference18 articles.

1. The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

2. Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

3. Hyperuricemia as a prognostic factor in pulmonary arterial hypertension

4. Dual-mode recognition of noncanonical tRNAsSer by seryl-tRNA synthetase in mammalian mitochondria

5. When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases

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4. Genetic Variability of HUPRA Syndrome—A Case Report;Kidney and Dialysis;2023-04-26

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