A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. [artículo]
Por: Arenas Barbero, Joaquín [Instituto de Investigación]
| Delmiro Magdalena, Aitor [Bioquímica Clínica] | García Silva, María Teresa [Unidad de Enfermedades Metabólicas y Mitocondriales] | Martín Casanueva, Miguel Ángel [Bioquímica Clínica] | Martinez Azorin, Francisco [Instituto de Investigación i+12] | Martín Hernández, Elena [Unidad de Enfermedades Metabólicas y Mitocondriales] | Muley Alonso, Rafael [Nefrología] | Quijada Fraile, Pilar [Pediatría] | Rivera Gorrín, Henry [Instituto de Investigación i+12].
Colaborador(es): Servicio de Pediatría-Neonatología | Instituto de Investigación imas12.
Editor: BMC nephrology, 2013Descripción: 14:195.Recursos en línea: Acceso libre Resumen: 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 seryl-tRNA synthetase.
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Artículo
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PC5518 (Navegar estantería) | Disponible |
Formato Vancouver:
Rivera H, Martín-Hernández E, Delmiro A, García-Silva MT, Quijada-Fraile P, Muley R et al. A new mutation in the gene
encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. BMC Nephrol. 2013 Sep 13;14:195.
PMID:24034276
Contiene 19 referencias
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 seryl-tRNA synthetase.
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