A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

BACKGROUND: HUPRA syndrome is a rare mitochondrial disease characterized by hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis. This syndrome was previously described in three patients with a homozygous mutation c.1169A > G (p.D390G) in SARS2, encoding the mitochondrial...

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Bibliografski detalji
Glavni autori: Rivera, Henry, Martín-Hernández, Elena, Delmiro, Aitor, García-Silva, María Teresa, Quijada-Fraile, Pilar, Muley, Rafael, Arenas, Joaquín, Martín, Miguel A, Martínez-Azorín, Francisco
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2013
Teme:
Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3847196/
https://ncbi.nlm.nih.gov/pubmed/24034276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-14-195
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