Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G > T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency

Citation
Puisac, B., Teresa-Rodrigo, M. E., Arnedo, M., Gil-Rodríguez, M. C., Pérez-Cerdá, C., Ribes, A., Pié, Á., Bueno, G., Gómez-Puertas, P., & Pié, J. (2013). Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency. Molecular Genetics and Metabolism, 108(4), 232–240. https://doi.org/10.1016/j.ymgme.2013.01.019
DOI:
DOI: 10.1016/j.ymgme.2013.01.019
Year of publication:
2013