Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis.
Heliyon
Wang Y, Liu J, Liu T, An X, Huang L, Li J, Zhang Y, Xiang Y, Xiao L, Yi W, Qin J, Liu L, Wang C, Yu J.
Publication Overview
Key findings, Countstar context, and access to the original paper.
2024
Immunology
No items found.
Key Finding
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.
