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 journalArticle

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

Fingerprint

arginyl-glutamine
Mutation
Pyruvate Kinase
Genes
Liver
Enzymes
Pyruvate Kinase Deficiency of Red Cells

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Six children with pyruvate kinase deficiency from one small town : Molecular characterization of the PK-LR gene. / Christensen, Robert D.; Yaish, Hassan M.; Johnson, Charlotte B.; Bianchi, Paola; Zanella, Alberto.

In: Journal of Pediatrics, Vol. 159, No. 4, 10.2011, p. 695-697.

Research output: Contribution to journalArticle

Christensen, Robert D. ; Yaish, Hassan M. ; Johnson, Charlotte B. ; Bianchi, Paola ; Zanella, Alberto. / Six children with pyruvate kinase deficiency from one small town : Molecular characterization of the PK-LR gene. In: Journal of Pediatrics. 2011 ; Vol. 159, No. 4. pp. 695-697.
@article{8ad572e31984441abd0341a0d9077877,
title = "Six children with pyruvate kinase deficiency from one small town: Molecular characterization of the PK-LR gene",
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.",
keywords = "PK, PK-LR, Pyruvate kinase, Pyruvate kinase liver/red cell",
author = "Christensen, {Robert D.} and Yaish, {Hassan M.} and Johnson, {Charlotte B.} and Paola Bianchi and Alberto Zanella",
year = "2011",
month = "10",
doi = "10.1016/j.jpeds.2011.05.043",
language = "English",
volume = "159",
pages = "695--697",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "4",

}

TY - JOUR

T1 - Six children with pyruvate kinase deficiency from one small town

T2 - Molecular characterization of the PK-LR gene

AU - Christensen, Robert D.

AU - Yaish, Hassan M.

AU - Johnson, Charlotte B.

AU - Bianchi, Paola

AU - Zanella, Alberto

PY - 2011/10

Y1 - 2011/10

N2 - 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.

AB - 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.

KW - PK

KW - PK-LR

KW - Pyruvate kinase

KW - Pyruvate kinase liver/red cell

UR - http://www.scopus.com/inward/record.url?scp=80052815886&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80052815886&partnerID=8YFLogxK

U2 - 10.1016/j.jpeds.2011.05.043

DO - 10.1016/j.jpeds.2011.05.043

M3 - Article

C2 - 21784452

AN - SCOPUS:80052815886

VL - 159

SP - 695

EP - 697

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 4

ER -