Journal Article
Research Support, Non-U.S. Gov't
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Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene.

We identified the pyruvate kinase liver/red cell enzyme gene mutation of 8 children previously diagnosed with pyruvate kinase deficiency who were living in a remote town in the western United States. Six were found to be homozygous for the mutation 1529G-A (510 Arg-Gln). Two previously thought to have pyruvate kinase deficiency did not, because they were heterozygous.

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