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

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Igarashi T, Inatomi J, Sekine T, Cha SH, Kanai Y, Kunimi M, Tsukamoto K, Satoh H, Shimadzu M, Tozawa F, Mori T, Shiobara M, Seki G, Endou H

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

Nat Genet. 1999 Nov;23(3):264-6.

PubMed ID
10545938 [ View in PubMed
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Polypeptides
NameUniProt ID
Electrogenic sodium bicarbonate cotransporter 1Q9Y6R1Details