Ten Novel HMGCL Mutations in 24 Patients of Different Origin with 3-Hydroxy-3-Methyl-Glutaric Aciduria

Citation
Menao, S., López-Viñas, E., Mir, C., Puisac, B., Gratacós, E., Arnedo, M., Carrasco, P., Moreno, S., Ramos, M., Gil, M. C., Pié, Á., Ribes, A., Pérez-Cerda, C., Ugarte, M., Clayton, P. T., Korman, S. H., Serra, D., Asins, G., Ramos, F. J., … Pié, J. (2009). Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. Human Mutation, 30(3), E520–E529. Portico. https://doi.org/10.1002/humu.20966
DOI:
DOI: 10.1002/humu.20966
Year of publication:
2009
Authors participating in BCBHub:
Paulino Gomez-Puertas