Litcius/Paper detail

A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis

Xue Tang, Xia Guo, Ju Gao

2020The Indian Journal of Pediatrics10 citationsDOI

Topics & Concepts

Hereditary spherocytosisDistal renal tubular acidosisCompound heterozygosityRenal tubular acidosisMutationTubulopathySpherocytosisGeneticsAcidosisHeterozygote advantageMedicineGeneBiologyInternal medicineKidneyAlleleSpleenSplenectomyErythrocyte Function and PathophysiologyIon Transport and Channel RegulationBiomedical Research and Pathophysiology
A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis | Litcius