Litcius/Paper detail

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

2022Gene16 citationsDOI

Topics & Concepts

SpectrinBiologyGeneticsGenetic heterogeneityPhenotypeGeneMutationCompound heterozygosityCytoskeletonCellErythrocyte Function and PathophysiologyHemoglobinopathies and Related DisordersDiabetes and associated disorders