Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved inPKLRgene expression-Reference-Cited by-同舟云学术

Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved inPKLRgene expression

Published:2014-03-03 Issue:4 Volume:89 Page:380-384
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am. J. Hematol.

Author:

van Oirschot Brigitte Antoinette¹,Francois Jerney Johanna Jeanette Maria¹,van Solinge Wouter Willem¹,van Wesel Annet Cornelia Wilhelmina¹,Rijksen Gert¹,van Amstel Hans Kristian Ploos²,van Wijk Richard¹

Affiliation:

1. Department of Clinical Chemistry and Hematology; University Medical Center Utrecht; Utrecht The Netherlands

2. Department of Medical Genetics; University Medical Center Utrecht; Utrecht The Netherlands

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajh.23647/fullpdf

Reference30 articles.

1. The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis;Wijk;Blood,2005

2. Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene;Fermo;Br J Haematol,2005

3. Characterization of the −148C>T promoter polymorphism in PKLR;Vooght;Haematologica,2008

4. Regulation of iron metabolism through GDF15 and hepcidin in pyruvate kinase deficiency;Finkenstedt;Br J Haematol,2009

5. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population;Beutler;Blood,2000

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