Article
Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.
Biochemistry and molecular biology international - 1 Jul 1995
Hirono H, Hayasaka K, Sato W, Takahashi T, Takada G
Abstract excerpt
X-linked liver glycogenosis (XLG) due to liver phosphorylase kinase (PHK) deficiency is the most frequent liver glycogen storage disease. The affected patients present in early childhood with hepatomegaly and growth retardation. We isolated and determined the structure of human liver alpha subuni...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Cloning, Molecular
- DNA, Complementary
- Female
- Hepatomegaly
- Humans
- Liver
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Phosphorylase Kinase
- Rabbits