A novel mutation in a Brazilian patient with glycogen storage disease type 1a.
Centro de Biologia Molecular e Engenharia Genética, Campinas, SP.
E L
EL
Sartorato
F C
FC
Reis
D Y
DY
Norato
C
C
Hackel
D001120:Arginine / Q000235:genetics; D001938:Brazil; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
D001120:Arginine; D005952:Glucose-6-Phosphatase; D005998:Glycine