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