HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship

In conclusion, we showed that HSAN1 mutations in SPT have distinct biochemical properties, which allowed for the prediction of the clinical symptoms on the basis of the plasma sphingoid base profile.

Source: Human Molecular Genetics - February 15, 2016 Category: Genetics & Stem Cells Authors: Bode, H., Bourquin, F., Suriyanarayanan, S., Wei, Y., Alecu, I., Othman, A., Von Eckardstein, A., Hornemann, T. Tags: ARTICLES Source Type: research