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

Indian J Pediatr. 2020 Mar;87(3):233-234. doi: 10.1007/s12098-019-03171-4. Epub 2020 Jan 14.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acidosis, Renal Tubular / genetics*
  • Acidosis, Renal Tubular / physiopathology
  • Anemia
  • Anion Exchange Protein 1, Erythrocyte / genetics*
  • Humans
  • Infant
  • Male
  • Mutation*
  • Spherocytosis, Hereditary / genetics*
  • Spherocytosis, Hereditary / physiopathology

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • SLC4A1 protein, human