Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

标题
Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome
作者
关键词
-
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 88, Issue 2, Pages 193-200
出版商
Elsevier BV
发表日期
2011-01-24
DOI
10.1016/j.ajhg.2010.12.010

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