Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing
Tejashree Anil More, Prabhakar Kedar
Topics & Concepts
SpectrinBiologyGeneticsGenetic heterogeneityPhenotypeGeneMutationCompound heterozygosityCytoskeletonCellErythrocyte Function and PathophysiologyHemoglobinopathies and Related DisordersDiabetes and associated disorders