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Cryptic exon activation in SLC12A3 in Gitelman syndrome.
Nozu K, Nozu Y, Nakanishi K, Konomoto T, Horinouchi T, Shono A, Morisada N, Minamikawa S, Yamamura T, Fujimura J, Nakanishi K, Ninchoji T, Kaito H, Morioka I, Taniguchi-Ikeda M, Vorechovsky I, Iijima K. Nozu K, et al. Among authors: vorechovsky i. J Hum Genet. 2017 Feb;62(2):335-337. doi: 10.1038/jhg.2016.129. Epub 2016 Oct 27. J Hum Genet. 2017. PMID: 27784896
Branch site haplotypes that control alternative splicing.
Královicová J, Houngninou-Molango S, Krämer A, Vorechovsky I. Královicová J, et al. Among authors: vorechovsky i. Hum Mol Genet. 2004 Dec 15;13(24):3189-202. doi: 10.1093/hmg/ddh334. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496424
Natural history of genetically proven autosomal recessive Alport syndrome.
Oka M, Nozu K, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Morisada N, Yan K, Matsuo M, Yoshikawa N, Vorechovsky I, Iijima K. Oka M, et al. Among authors: vorechovsky i. Pediatr Nephrol. 2014 Sep;29(9):1535-44. doi: 10.1007/s00467-014-2797-4. Epub 2014 Mar 15. Pediatr Nephrol. 2014. PMID: 24633401
X-linked Alport syndrome caused by splicing mutations in COL4A5.
Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, Imasawa T, Ushijima K, Shimizu J, Makita Y, Konomoto T, Yoshikawa N, Iijima K. Nozu K, et al. Among authors: vorechovsky i. Clin J Am Soc Nephrol. 2014 Nov 7;9(11):1958-64. doi: 10.2215/CJN.04140414. Epub 2014 Sep 2. Clin J Am Soc Nephrol. 2014. PMID: 25183659 Free PMC article.
129 results