Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.

@article{Kanno1994MolecularAO,
  title={Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.},
  author={Hitoshi Kanno and Samir K Ballas and Soichi Miwa and Hiroshi Fujii and H S Bowman},
  journal={Blood},
  year={1994},
  volume={83 8},
  pages={2311-6}
}
We describe the cellular and molecular biologic studies of the erythrocyte pyruvate kinase (PK) deficiency of the Amish deme in Pennsylvania. Nucleotide sequencing of the patient's PK gene showed a point mutation, CGC to CAC, corresponding to no. 1436 from the translational initiation site of the R-type PK (R-PK) mRNA, and it caused a single amino acid substitution from Arg to His at the 479th amino acid residue of the R-PK. The substituted Arg residue is located in the C domain of PK subunit… CONTINUE READING