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

BMC Nephrology

Volumn 14, Issue 1, 2013, Pages

  Rivera, Henry ^a,b   Martín Hernández, Elena ^c   Delmiro, Aitor ^a,b   García Silva, María Teresa ^b,c   Quijada Fraile, Pilar ^c   Muley, Rafael ^c   Arenas, Joaquín ^a,b   Martín, Miguel A ^a,b   Martínez Azorín, Francisco ^a,b  

^a Universidad Complutense   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

HUPRA syndrome; Mitochondrial disease; Mitochondrial DNA; Mitochondrial respiratory chain; SARS2

Indexed keywords

BOSENTAN; CITRATE SYNTHASE; CYTOCHROME C OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SERINE TRANSFER RNA LIGASE; SILDENAFIL; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ALKALOSIS; ANALYSIS; ARTICLE; CASE REPORT; CHILD; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; FAILURE TO THRIVE; FEMALE; FIBROBLAST; GENE MUTATION; HEART RIGHT VENTRICLE HYPERTROPHY; HUMAN; HYPERURICEMIA; HYPERURICEMIA PULMONARY HYPERTENSION RENAL FAILURE ALKALOSIS SYNDROME; INFANT; KIDNEY FAILURE; MALE; MITOCHONDRIAL RESPIRATION; MULTIPLE ORGAN FAILURE; MUSCLE HYPOTONIA; MUTATION; NORMOCHROMIC NORMOCYTIC ANEMIA; PALLOR; PEDIGREE; PULMONARY HYPERTENSION; SYNDROME;

ALKALOSIS, RESPIRATORY; FEMALE; GENETIC MARKERS; HUMANS; HYPERTENSION, PULMONARY; HYPERURICEMIA; INFANT; MITOCHONDRIAL PROTEINS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RENAL INSUFFICIENCY; SERINE-TRNA LIGASE; SYNDROME;

EID: 84884325479     PISSN: None     EISSN: 14712369     Source Type: Journal    
DOI: 10.1186/1471-2369-14-195     Document Type: Article

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