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 α 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.
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References
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Gossen, M., Wüllrich, A. & Kilimann, M.W. Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13. Hum Genet 95, 469–470 (1995). https://doi.org/10.1007/BF00208982
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DOI: https://doi.org/10.1007/BF00208982