Six children with pyruvate kinase deficiency from one small town: Molecular characterization of the PK-LR gene

Robert D. Christensen, Hassan M. Yaish, Charlotte B. Johnson, Paola Bianchi, Alberto Zanella

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)695-697
Number of pages3
JournalJournal of Pediatrics
Volume159
Issue number4
DOIs
Publication statusPublished - Oct 2011

Keywords

  • PK
  • PK-LR
  • Pyruvate kinase
  • Pyruvate kinase liver/red cell

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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