TY - JOUR 
A1 - García-Consuegra, Inés
AU - Rubio, Juan Carlos
AU - Nogales-Gadea, Gisela
AU - Bautista, José M.
AU - Jiménez Sáiz, Sergio Lorenzo
AU - Cabello Sánchez, Ana Belén
AU - Lucía Mulas, Alejandro
AU - Andreu, Antoni L.
AU - Arenas, Joaquín
AU - Martín, Miguel Ángel
T1 - Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease
Y1 - 2009
SN - 14321203
UR - http://hdl.handle.net/11268/400
KW - Point Mutation*
KW - Glycogen Phosphorylase, Muscle Form/*Deficiency
KW - Glycogen Phosphorylase, Muscle Form/*Genetics
KW - Glycogen Storage Disease Type V/*Enzymology
KW - Glycogen Storage Disease Type V/*Genetics
KW - Humans
KW - Introns
KW - Molecular Sequence Data
KW - Rna Splicing/Genetics
KW - Genética humana
LA - eng
ER -