New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

Citation
Ramos, M., Menao, S., Arnedo, M., Puisac, B., Gil-Rodríguez, M. C., Teresa-Rodrigo, M. E., Hernández-Marcos, M., Pierre, G., Ramaswami, U., Baquero-Montoya, C., Bueno, G., Casale, C., Hegardt, F. G., Gómez-Puertas, P., & Pié, J. (2013). New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. European Journal of Medical Genetics, 56(8), 411–415. https://doi.org/10.1016/j.ejmg.2013.05.008
DOI:
DOI: 10.1016/j.ejmg.2013.05.008
Year of publication:
2013
Authors participating in BCBHub:
Paulino Gomez-Puertas