García-Consuegra, InésRubio, Juan CarlosNogales-Gadea, GiselaBautista, José M.Jiménez Sáiz, Sergio LorenzoCabello Sánchez, Ana BelénLucía Mulas, AlejandroAndreu, Antoni L.Arenas, JoaquínMartín, Miguel Ángel2013-11-272013-11-272009García-Consuegra, I., Rubio, J. C., Nogales-Gadea, G., Bautista, J. M., Jiménez-Sáiz, S., Cabello-Sánchez, A. B., ..., & Martín, M. A. (2009). Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease. Human Genetics, 125(3), 343.14321203http://hdl.handle.net/11268/400engPoint Mutation*Glycogen Phosphorylase, Muscle Form/*DeficiencyGlycogen Phosphorylase, Muscle Form/*GeneticsGlycogen Storage Disease Type V/*EnzymologyGlycogen Storage Disease Type V/*GeneticsHumansIntronsMolecular Sequence DataRna Splicing/Geneticsjournal articlerestricted accessGenética humana