Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.
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Y. Takeshima | G. Seki | H. Endou | N. Yoshikawa | T. Igarashi | T. Takumi | H. Nakamura | J. Inatomi | T. Sekine | M. Shimadzu | H. Nakamura | T. Takahashi | Toshikazu Takahashi | F. Tozawa | T. Takahashi | T. Takahashi | Fumiko Tozawa