Minsun Kim Seung Yeob Lee Namsu Kim Jaehyeon Lee Dal Sik Kim Joonhong Park Yong Gon Cho
10.3389/fped.2022.1022980
Front Pediatr
2022 Dec 1;10:1022980.
pk enzyme activity pklr exon deletion copy number variation multiplex ligation-dependent probe amplification next-generation sequencing pgly536asp pyruvate kinase deficiency
CC BY
https://pubmed.ncbi.nlm.nih.gov/36533240/
Case Reports
PMC9752143
36533240
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
2022