A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. [electronic resource]
Producer: 20140722Description: 195 p. digitalISSN:- 1471-2369
- Alkalosis, Respiratory -- genetics
- Female
- Genetic Markers -- genetics
- Humans
- Hypertension, Pulmonary -- genetics
- Hyperuricemia -- genetics
- Infant
- Mitochondrial Proteins -- genetics
- Mutation -- genetics
- Polymorphism, Single Nucleotide -- genetics
- Renal Insufficiency -- genetics
- Serine-tRNA Ligase -- genetics
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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