A novelPKLRgene mutation identified using advanced molecular techniques
Author:
Affiliation:
1. Department of Pediatrics; The First Affiliated Hospital of Guangxi Medical University; Guangxi Key Laboratory of Thalassemia Research; Nanning Guangxi Province China
2. Guangxi Medical University; Nanning Guangxi Province China
Funder
Guangxi Key Laboratory of Thalassemia Research
National Natural Science Foundation of China
Publisher
Wiley
Subject
Transplantation,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/petr.13143/fullpdf
Reference37 articles.
1. Erythrocyte pyruvate kinase deficiency: 2015 status report;Grace;Am J Hematol,2015
2. A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia;Valentine;Trans Assoc Am Physicians,1961
3. Pyruvate kinase deficient hemolytic anemia in the Northern Irish population;Percy;Blood Cells Mol Dis,2007
4. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population;Beutler;Blood,2000
5. A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child;Li;Fetal Pediatr Pathol,2014
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