Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Viéitez
Irene
I
University Hospital of Vigo, Spain. irenevigo@gmail.com
Teijeira
Susana
S
Millán
Beatriz San
BS
Navarro
Carmen
C
D001483:Base Sequence; D018389:Codon, Nonsense; D005091:Exons; D016368:Frameshift Mutation; D024982:Glycogen Phosphorylase, Muscle Form / Q000172:deficiency* / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional
D018389:Codon, Nonsense; D024982:Glycogen Phosphorylase, Muscle Form