Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria. [electronic resource]
Producer: 20140715Description: 961-6 p. digitalISSN:- 1573-2665
- Alanine Transaminase -- chemistry
- Amino Acid Sequence
- Cells, Cultured
- Child, Preschool
- Epilepsies, Myoclonic -- genetics
- Female
- HEK293 Cells
- Humans
- Intellectual Disability -- genetics
- Models, Molecular
- Molecular Sequence Data
- Mutation, Missense
- Phosphorus-Oxygen Lyases -- genetics
- Polymorphism, Single Nucleotide -- physiology
- Protein Folding
- Sequence Homology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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