cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia.
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Cited by 78 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency;Molecular Genetics & Genomic Medicine;2023-07-19
2. Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population;Annals of Hematology;2023-03-09
3. PYK-SubstitutionOME: an integrated database containing allosteric coupling, ligand affinity and mutational, structural, pathological, bioinformatic and computational information about pyruvate kinase isozymes;Database;2023-01-01
4. Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency;Frontiers in Pediatrics;2022-12-01
5. Non-spherocytic hemolytic anemia caused by erythrocyte pyruvate kinase defiiency: the analysis of genetic defects in pediatric patients, living in Russian Federation;Pediatric Hematology/Oncology and Immunopathology;2021-05-22
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