Ex vivoanalysis of aberrant splicing induced by two donor site mutations inPKLRof a patient with severe pyruvate kinase deficiency
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2004.04895.x/fullpdf
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1. A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report;Journal of Medical Case Reports;2021-07-27
2. Pyruvat kinase deficiency and nonspherocytic hemolytic anemia;Pediatric Hematology/Oncology and Immunopathology;2020-10-09
3. Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency;Haematologica;2019-04-04
4. A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat;Journal of Pediatric Hematology/Oncology;2018-10
5. Residual pyruvate kinase activity inPKLR-deficient erythroid precursors of a patient suffering from severe haemolytic anaemia;European Journal of Haematology;2017-04-12
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