Article
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.
Human molecular genetics - 1 Jan 1995
Hendrickx J, Coucke P, Dams E, Lee P, Odièvre M, Corbeel L, Fernandes J F, Willems P J
Abstract excerpt
Phosphorylase kinase (PHK) is a key enzyme in the control of glycogen breakdown. Several types of PHK deficiency have been described of which X-linked liver glycogenosis type I (XLG I) is the most common. Since the XLG I locus and the gene encoding the liver alpha-subunit gene of PHK (PHKA2) have...
Topics
- Base Sequence
- Codon, Terminator
- DNA Mutational Analysis
- DNA Primers
- Exons
- Female
- Genetic Linkage
- Glycogen Storage Disease
- Humans
- Introns
- Liver Glycogen
- Male
- Molecular Sequence Data
- Mutation
- Phosphorylase Kinase
- RNA Splicing
- X Chromosome