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

✍ Scribed by Ruth Belostotsky; Efrat Ben-Shalom; Choni Rinat; Rachel Becker-Cohen; Sofia Feinstein; Sharon Zeligson; Reeval Segel; Orly Elpeleg; Suheir Nassar; Yaacov Frishberg

• Book ID: 113422975
• Publisher: American Society of Human Genetics
• Year: 2011
• Tongue: English
• Weight: 1020 KB
• Volume: 88
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2010.12.010