Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.
Rudolfová
J
J
Department of Biochemical and Molecular Genetics, Research Institute of Child Health, Brno, Czech Republic.
Slovácková
R
R
Trbusek
M
M
Pesková
K
K
St'astná
S
S
Kozák
L
L
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
D010764:Phosphorylase Kinase