Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
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; Nature Genetics, 1999, vol. 23, issue 3, p 264, ISSN 10614036. ISBN 10614036.

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