Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 21784452.
- Also identified by DOI 10.1016/j.jpeds.2011.05.043.
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Abstract
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.
Medical subject headings
- Mutation
- Pyruvate Kinase