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Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
Ishiko S, Morisada N, Kondo A, Nagai S, Aoto Y, Okada E, Rossanti R, Sakakibara N, Nagano C, Horinouchi T, Yamamura T, Ninchoji T, Kaito H, Hamada R, Shima Y, Nakanishi K, Matsuo M, Iijima K, Nozu K. Ishiko S, et al. Clin Exp Nephrol. 2022 Feb;26(2):140-153. doi: 10.1007/s10157-021-02135-3. Epub 2021 Sep 18. Clin Exp Nephrol. 2022. PMID: 34536170 Free PMC article.
Clinical characteristics of HNF1B-related disorders in a Japanese population.
Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S, Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S, Ishikura K, Ito S, Hattori M, Iijima K. Nagano C, et al. Clin Exp Nephrol. 2019 Sep;23(9):1119-1129. doi: 10.1007/s10157-019-01747-0. Epub 2019 May 27. Clin Exp Nephrol. 2019. PMID: 31131422