PMID- 10545938
OWN - NLM
STAT- MEDLINE
DCOM- 19991207
LR  - 20131121
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 3
DP  - 1999 Nov
TI  - Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with
      ocular abnormalities.
PG  - 264-6
FAU - Igarashi, T
AU  - Igarashi T
FAU - Inatomi, J
AU  - Inatomi J
FAU - Sekine, T
AU  - Sekine T
FAU - Cha, S H
AU  - Cha SH
FAU - Kanai, Y
AU  - Kanai Y
FAU - Kunimi, M
AU  - Kunimi M
FAU - Tsukamoto, K
AU  - Tsukamoto K
FAU - Satoh, H
AU  - Satoh H
FAU - Shimadzu, M
AU  - Shimadzu M
FAU - Tozawa, F
AU  - Tozawa F
FAU - Mori, T
AU  - Mori T
FAU - Shiobara, M
AU  - Shiobara M
FAU - Seki, G
AU  - Seki G
FAU - Endou, H
AU  - Endou H
LA  - eng
PT  - Case Reports
PT  - Letter
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Anion Transport Proteins)
RN  - 0 (Antiporters)
RN  - 0 (Carrier Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (SLC4A Proteins)
RN  - 0 (Sodium-Bicarbonate Symporters)
SB  - IM
MH  - Acidosis, Renal Tubular/*genetics/pathology/physiopathology
MH  - Adolescent
MH  - Adult
MH  - Amino Acid Substitution
MH  - *Anion Transport Proteins
MH  - *Antiporters
MH  - Blindness
MH  - Carrier Proteins/*genetics/physiology
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 4/genetics
MH  - Consanguinity
MH  - DNA Mutational Analysis
MH  - Eye Abnormalities/*genetics/physiopathology
MH  - Female
MH  - Homozygote
MH  - Humans
MH  - Kidney/metabolism/pathology
MH  - Male
MH  - Membrane Proteins/*genetics/*physiology
MH  - *Mutation
MH  - SLC4A Proteins
MH  - Sodium-Bicarbonate Symporters
EDAT- 1999/11/05 08:00
MHDA- 2001/03/23 10:01
CRDT- 1999/11/05 08:00
PHST- 1999/11/05 08:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/11/05 08:00 [entrez]
AID - 10.1038/15440 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Nov;23(3):264-6. doi: 10.1038/15440.