Article
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.
Journal of inherited metabolic disease - 1 Dec 1998
Hirono H, Shoji Y, Takahashi T, Sato W, Takeda E, Nishijo T, Kuroda Y, Nishigaki T, Inui K, Takada G
Abstract excerpt
We analysed the gene of the human alpha-subunit of liver phosphorylase kinase (PHKA2) in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1 by RT-PCR followed by PCR-single-strand conformation polymorphism and direct DNA sequencing. In this study, two novel mutation...
Topics
- Base Sequence
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Genetic Linkage
- Humans
- Infant
- Japan
- Liver
- Male
- Molecular Sequence Data
- Mutation
- Phosphorylase Kinase
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Analysis, DNA
- X Chromosome