Article
Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.
Human genetics - 1 Apr 1995
Gossen M, Wüllrich A, Kilimann M W
Abstract excerpt
A polymorphic complex repeat including two (TG)n stretches was identified in the intron following codon 26 of the human gene encoding the muscle isoform of the phosphorylase kinase alpha subunit (PHKA1). It should be a useful marker for linkage analysis of families with heritable phosphorylase ki...
Topics
- Alleles
- Base Sequence
- Gene Frequency
- Glycogen Storage Disease
- Humans
- Introns
- Isoenzymes
- Molecular Sequence Data
- Mutation
- Phosphorylase Kinase
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
- X Chromosome
