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J Pediatr. 2011 Oct;159(4):695-7. doi: 10.1016/j.jpeds.2011.05.043. Epub 2011 Jul 23.

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

Author information

1
Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, UT, USA. rdchris4@ihc.com

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.

PMID:
21784452
DOI:
10.1016/j.jpeds.2011.05.043
[Indexed for MEDLINE]

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