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

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...

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Detalles Bibliográficos
Autores principales: Kim, Minsun, Lee, Seung Yeob, Kim, Namsu, Lee, Jaehyeon, Kim, Dal Sik, Park, Joonhong, Cho, Yong Gon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9752143/
https://www.ncbi.nlm.nih.gov/pubmed/36533240
http://dx.doi.org/10.3389/fped.2022.1022980

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9752143/
https://www.ncbi.nlm.nih.gov/pubmed/36533240
http://dx.doi.org/10.3389/fped.2022.1022980

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