title: Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.
abstract: 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 kinase deficiency and for gene mapping in the vicinity of the X inactivation center.
authors.affiliation: Institut für Physiologische Chemie, Ruhr-Universität Bochum, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Gossen
authors.forename: A
authors.initials: A
authors.lastname: Wüllrich
authors.forename: M W
authors.initials: MW
authors.lastname: Kilimann
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005787:Gene Frequency; D006008:Glycogen Storage Disease / Q000235:genetics*; D006801:Humans; D007438:Introns; D007527:Isoenzymes / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D010764:Phosphorylase Kinase / Q000172:deficiency / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome
chemical_list: D007527:Isoenzymes; D010764:Phosphorylase Kinase