Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization
Hua Teng, Liang Chen, Desheng Liang, Zhuo Li, Lingqian Wu
Topics & Concepts
ProbandCompound heterozygosityBiologySubcellular localizationMicrocephalyMutantPathologyMutationGeneticsMedicineGeneRenal Diseases and GlomerulopathiesIon Transport and Channel RegulationAmyloidosis: Diagnosis, Treatment, Outcomes