A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

Abstract Background Erythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total adenosine triphosphate. Pyruvate kinase deficiency is the commonest gl...

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Bibliographic Details
Main Authors: Ahalyaa Sivashangar, Lallindra Gooneratne, Barnaby Clark, David Rees, Saroj Jayasinghe, Claire Laas
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Journal of Medical Case Reports
Subjects:
Sri Lankan
Genetic variant
PKLR gene
Pyruvate kinase deficiency
Case report
Online Access:https://doi.org/10.1186/s13256-021-02972-6

Internet

https://doi.org/10.1186/s13256-021-02972-6

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