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Acknowledgements
We thank the patients and their families for participation. Support for this study was provided by the Ministry of Education, Science, Sport and Culture of Japan (grant 11670741) and the Ministry of Health and Welfare of Japan.
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Igarashi, T., Inatomi, J., Sekine, T. et al. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. Nat Genet 23, 264–266 (1999). https://doi.org/10.1038/15440
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DOI: https://doi.org/10.1038/15440
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