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Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.
Podkrajsek KT, Milenković T, Odink RJ, Claasen-van der Grinten HL, Bratanic N, Hovnik T, Battelino T. Podkrajsek KT, et al. Among authors: hovnik t. Eur J Endocrinol. 2008 Nov;159(5):633-9. doi: 10.1530/EJE-08-0328. Epub 2008 Aug 5. Eur J Endocrinol. 2008. PMID: 18682433
GPR143 gene mutation analysis in pediatric patients with albinism.
Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T. Trebušak Podkrajšek K, et al. Among authors: hovnik t. Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9. Ophthalmic Genet. 2012. PMID: 22486324
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