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Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes.
Kaimori JY, Ichimaru N, Isaka Y, Hashimoto F, Fu X, Hashimura Y, Kaito H, Iijima K, Kyo M, Namba T, Obi Y, Hatanaka M, Matsui I, Takabatake Y, Okumi M, Yazawa K, Nonomura N, Rakugi H, Takahara S. Kaimori JY, et al. Among authors: hashimura y. CEN Case Rep. 2013 May;2(1):98-101. doi: 10.1007/s13730-012-0049-7. Epub 2012 Dec 9. CEN Case Rep. 2013. PMID: 28509228 Free PMC article.
The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies.
Nozu K, Iijima K, Kanda K, Nakanishi K, Yoshikawa N, Satomura K, Kaito H, Hashimura Y, Ninchoji T, Komatsu H, Kamei K, Miyashita R, Kugo M, Ohashi H, Yamazaki H, Mabe H, Otsubo A, Igarashi T, Matsuo M. Nozu K, et al. Among authors: hashimura y. J Clin Endocrinol Metab. 2010 Dec;95(12):E511-8. doi: 10.1210/jc.2010-0392. Epub 2010 Sep 1. J Clin Endocrinol Metab. 2010. PMID: 20810575
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