A novel mutation in a Brazilian patient with glycogen storage disease type 1a.
Sartorato
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EL
Centro de Biologia Molecular e Engenharia Genética, Campinas, SP.
Reis
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FC
Norato
D Y
DY
Hackel
C
C
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