Mutations in the mitochondrial Seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

American Journal of Human Genetics

Volumn 88, Issue 2, 2011, Pages 193-200

  Belostotsky, Ruth ^a   Ben Shalom, Efrat ^a,b   Rinat, Choni ^a,b   Becker Cohen, Rachel ^a,b   Feinstein, Sofia ^a,b   Zeligson, Sharon ^a   Segel, Reeval ^a   Elpeleg, Orly ^c   Nassar, Suheir ^d   Frishberg, Yaacov ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d Al Makassed Islamic Charitable Society Hospital   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; SERINE TRANSFER RNA LIGASE;

AMINOACYLATION; ARAB; ARTICLE; BRONCHIOLITIS; CASE REPORT; CHROMOSOME 19; CREATININE CLEARANCE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAILURE TO THRIVE; FEMALE; FLUID THERAPY; GENE TARGETING; GENETIC ASSOCIATION; HEART LEFT VENTRICLE HYPERTROPHY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERURICEMIA; INFANT; KIDNEY BIOPSY; KIDNEY FAILURE; KIDNEY PARENCHYMA; KIDNEY TUBULE DISORDER; MALE; METABOLIC ALKALOSIS; MUTATION; PRIORITY JOURNAL; PROTEINURIA; PULMONARY HYPERTENSION; RNA EXTRACTION; SINGLE NUCLEOTIDE POLYMORPHISM; UREA NITROGEN BLOOD LEVEL; UREMIA; URINALYSIS;

ALKALOSIS, RESPIRATORY; DNA, MITOCHONDRIAL; FEMALE; HUMANS; HYPERTENSION, PULMONARY; HYPERURICEMIA; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RENAL INSUFFICIENCY; RNA, TRANSFER, AMINO ACYL; SERINE-TRNA LIGASE; SYNDROME;

EID: 79851508857     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.12.010     Document Type: Article

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