Arenas Barbero, Joaquín Delmiro Magdalena, Aitor García Silva, María Teresa Martín Casanueva, Miguel Ángel Martinez Azorin, Francisco Martín Hernández, Elena Muley Alonso, Rafael Quijada Fraile, Pilar Rivera Gorrín, Henry
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. [artículo] - BMC nephrology, 2013 - 14:195.
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.
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. [artículo] - BMC nephrology, 2013 - 14:195.
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.
