Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
Igarashi
T
T
Inatomi
J
J
Sekine
T
T
Cha
S H
SH
Kanai
Y
Y
Kunimi
M
M
Tsukamoto
K
K
Satoh
H
H
Shimadzu
M
M
Tozawa
F
F
Mori
T
T
Shiobara
M
M
Seki
G
G
Endou
H
H
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
D027321:Anion Transport Proteins; D017920:Antiporters; D002352:Carrier Proteins; D008565:Membrane Proteins; D064606:SLC4A Proteins; D027982:Sodium-Bicarbonate Symporters