HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. [electronic resource]
Producer: 20161213Description: 853-65 p. digitalISSN:- 1460-2083
- Adult
- Aged
- Alanine -- chemistry
- Catalytic Domain
- Child
- Gas Chromatography-Mass Spectrometry
- Gene Expression
- HEK293 Cells
- Hereditary Sensory and Autonomic Neuropathies -- enzymology
- Humans
- Isotope Labeling
- Middle Aged
- Models, Molecular
- Mutation
- Phenotype
- Principal Component Analysis
- Recombinant Proteins -- blood
- Serine -- chemistry
- Serine C-Palmitoyltransferase -- blood
- Severity of Illness Index
- Sphingolipids -- blood
- Structural Homology, Protein
- Structure-Activity Relationship
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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