title: Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.
authors: Department of Biochemical and Molecular Genetics, Research Institute of Child Health, Brno, Czech Republic.
authors: J
authors: J
authors: Rudolfová
authors: R
authors: R
authors: Slovácková
authors: M
authors: M
authors: Trbusek
authors: K
authors: K
authors: Pesková
authors: S
authors: S
authors: St'astná
authors: L
authors: L
authors: Kozák
mesh_terms: D000328:Adult; D002648:Child; D018153:Czech Republic; D005260:Female; D008040:Genetic Linkage; D006008:Glycogen Storage Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010764:Phosphorylase Kinase / Q000172:deficiency / Q000235:genetics*; D014960:X Chromosome
chemical_list: D010764:Phosphorylase Kinase