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

Author:

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

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

11 February 2011

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