title: Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
authors.forename: T
authors.initials: T
authors.lastname: Igarashi
authors.forename: J
authors.initials: J
authors.lastname: Inatomi
authors.forename: T
authors.initials: T
authors.lastname: Sekine
authors.forename: S H
authors.initials: SH
authors.lastname: Cha
authors.forename: Y
authors.initials: Y
authors.lastname: Kanai
authors.forename: M
authors.initials: M
authors.lastname: Kunimi
authors.forename: K
authors.initials: K
authors.lastname: Tsukamoto
authors.forename: H
authors.initials: H
authors.lastname: Satoh
authors.forename: M
authors.initials: M
authors.lastname: Shimadzu
authors.forename: F
authors.initials: F
authors.lastname: Tozawa
authors.forename: T
authors.initials: T
authors.lastname: Mori
authors.forename: M
authors.initials: M
authors.lastname: Shiobara
authors.forename: G
authors.initials: G
authors.lastname: Seki
authors.forename: H
authors.initials: H
authors.lastname: Endou
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D027321:Anion Transport Proteins; D017920:Antiporters; D001766:Blindness; D002352:Carrier Proteins / Q000235:genetics* / Q000502:physiology; D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006720:Homozygote; D006801:Humans; D007668:Kidney / Q000378:metabolism / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology*; D009154:Mutation; D064606:SLC4A Proteins; D027982:Sodium-Bicarbonate Symporters
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; D002352:Carrier Proteins; D008565:Membrane Proteins; D064606:SLC4A Proteins; D027982:Sodium-Bicarbonate Symporters