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UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS; Recessive H-ABC Research Group. Hamilton EMC, et al. Among authors: dojcakova d. Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931644 Free PMC article.
Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.
Priganc M, Zigová M, Boroňová I, Bernasovská J, Dojčáková D, Szabadosová V, Mydlárová Blaščáková M, Tóthová I, Kmec J, Bernasovský I. Priganc M, et al. Among authors: dojcakova d. J Clin Lab Anal. 2017 Mar;31(2):e22037. doi: 10.1002/jcla.22037. Epub 2016 Aug 24. J Clin Lab Anal. 2017. PMID: 27554632 Free PMC article.