Novel variants of seryl-tRNA synthetase resulting in HUPRA syndrome featured in pulmonary hypertension

Hyperuricemia, pulmonary hypertension, and renal failure in infancy and alkalosis syndrome (HUPRA syndrome) is an ultrarare mitochondrial disease that is characterized by hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. Seryl-tRNA synthetase 2 (SARS2) gene variants are believed t...

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Detalles Bibliográficos
Autores principales: Yang, Fan, Wang, Dan, Zhang, Xuehua, Fan, Haoqin, Zheng, Yu, Xiao, Zhenghui, Chen, Zhi, Xiao, Yunbin, Liu, Qiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9868236/
https://www.ncbi.nlm.nih.gov/pubmed/36698945
http://dx.doi.org/10.3389/fcvm.2022.1058569

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9868236/
https://www.ncbi.nlm.nih.gov/pubmed/36698945
http://dx.doi.org/10.3389/fcvm.2022.1058569

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