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Janošík M, Sokolová J, Janošíková B, Krijt J, Klatovská V, Kožich V. Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene. The Journal of Pediatrics. 2009 Mar;154(3):431–7. doi: 10.1016/j.jpeds.2008.09.015. |