Whole exome genome sequencing of the pedigree revealed a novel compound heterozygous mutation, c.1097del ( p.P3 66Lfs *12 ) and c.1493G > A ( p.R498H ), in the pyruvate kinase liver and red blood cell gene.
Countstar Connection
The study's cell samples underwent cell-density assessment with Countstar (model not specified) during transfection assessment in the 2024 Heliyon study.
