Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Belostotsky Ruth Ben-Shalom Efrat Rinat Choni Becker-Cohen Rachel Feinstein Sofia Zeligson Sharon Segel Reeval Elpeleg Orly Nassar Suheir Frishberg Yaacov

Affiliation:	¹Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem 91031, Israel;²Institute of Medical Genetics, Shaare Zedek Medical Center, Jerusalem 91031, Israel;³Hadassah-Hebrew University School of Medicine, Jerusalem 91120, Israel;⁴Monique and Jacques Roboh Department of Genetic Research, Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel;⁵Molecular Genetics Laboratory, Makassed Hospital, Jerusalem 91194, Israel

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