Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities

Nat Genet. 1999 Nov;23(3):264-6. doi: 10.1038/15440.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Renal Tubular / genetics*
  • Acidosis, Renal Tubular / pathology
  • Acidosis, Renal Tubular / physiopathology
  • Adolescent
  • Adult
  • Amino Acid Substitution
  • Anion Transport Proteins*
  • Antiporters*
  • Blindness
  • Carrier Proteins / genetics*
  • Carrier Proteins / physiology
  • Child, Preschool
  • Chromosomes, Human, Pair 4 / genetics
  • Consanguinity
  • DNA Mutational Analysis
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / physiopathology
  • Female
  • Homozygote
  • Humans
  • Kidney / metabolism
  • Kidney / pathology
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology*
  • Mutation*
  • SLC4A Proteins
  • Sodium-Bicarbonate Symporters

Substances

  • Anion Transport Proteins
  • Antiporters
  • Carrier Proteins
  • Membrane Proteins
  • SLC4A Proteins
  • Sodium-Bicarbonate Symporters