A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1.
Hidaka
Fumio
F
Department of Pediatrics, Miyazaki Medical College, University of Miyazaki, Miyazaki, Japan.
Sawada
Hirotake
H
Matsuyama
Misayo
M
Nunoi
Hiroyuki
H
D002675:Child, Preschool; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010764:Phosphorylase Kinase / Q000235:genetics*
D010764:Phosphorylase Kinase