Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome

BACKGROUND: Hyperuricemia, pulmonary hypertension, renal failure, and alkaline intoxication syndrome (HUPRA syndrome) is a rare autosomal recessive mitochondrial disease. SARS2 gene encoding seryl‐tRNA synthetase is the only pathogenic gene of HUPRA syndrome. All the previously reported cases with H...

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Detalles Bibliográficos
Autores principales: Zhou, Yi, Zhong, Cheng, Yang, Qin, Zhang, Gaofu, Yang, Haiping, Li, Qiu, Wang, Mo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123761/
https://www.ncbi.nlm.nih.gov/pubmed/33751860
http://dx.doi.org/10.1002/mgg3.1650

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123761/
https://www.ncbi.nlm.nih.gov/pubmed/33751860
http://dx.doi.org/10.1002/mgg3.1650

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