Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.

@article{Kanno1992IdenticalPM,
  title={Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.},
  author={Hitoshi Kanno and Hiroshi Fujii and Akira Hirono and Mitsuhiro Omine and Shusuke Miwa},
  journal={Blood},
  year={1992},
  volume={79 5},
  pages={
          1347-50
        }
}
We cloned and sequenced the cDNAs for R-type pyruvate kinase (R-PK) from three homozygous PK patients. A point mutation (1151ACG to ATG) identified in the R-PK cDNA of PK Nagasaki was identical with that previously identified in an unrelated family, PK Tokyo. The mutation has also been identified in the PK L gene of a Lebanese family, PK Beirut, by Neubauer et al (Blood 77:1871, 1991). These results suggest either that the point mutation is very old or that the same mutation occurs sporadically… CONTINUE READING

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