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

• Main Authors: Minsun Kim (Author), Seung Yeob Lee (Author), Namsu Kim (Author), Jaehyeon Lee (Author), Dal Sik Kim (Author), Joonhong Park (Author), Yong Gon Cho (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Red cell pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia and the most frequent enzyme abnormality of the glycolytic pathway. To the best of our knowledge, this is the first Korean PK deficiency study that analyzes copy number variation (CNV) usi...