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Clinical utility gene card for: Cystinuria.
Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, dello Strologo L, Pras E, Creemers J, Palacin M. Eggermann T, et al. Among authors: chatzikyriakidou a. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863055 Free PMC article. No abstract available.
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
Chatzikyriakidou A, Louizou E, Dedousis GV, Bisceglia L, Michelakakis H, Georgiou I. Chatzikyriakidou A, et al. Mol Genet Metab. 2008 Nov;95(3):192-3. doi: 10.1016/j.ymgme.2008.07.006. Epub 2008 Sep 7. Mol Genet Metab. 2008. PMID: 18778962 No abstract available.
Gene symbol: SLC3A1. Disease: Cystinuria.
Chatzikyriakidou A, Sofikitis N, Georgiou I. Chatzikyriakidou A, et al. Hum Genet. 2005 May;116(6):543. Hum Genet. 2005. PMID: 15991328 No abstract available.
62 results