Published in:

01-02-2006 | Original Article

A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase

Authors: C. Mir, E. Lopez-Viñas, R. Aledo, B. Puisac, C. Rizzo, C. Dionisi-Vici, F. Deodato, J. Pié, P. Gomez-Puertas, F. G. Hegardt, N. Casals

Published in: Journal of Inherited Metabolic Disease | Issue 1/2006