A novelPKLRgene mutation identified using advanced molecular techniques

Author:

He Yunyan1,Luo Jianming1,Lei Yonghong1,Jia Siyuan2,Liao Ning1ORCID

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

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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