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Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene

By Miroslav Janošík, Jitka Sokolová, Bohumila Janošíková, Jakub Krijt, Veronika Klatovská and Viktor Kožich
Topics: Original Article
Publisher: Mosby
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Provided by: PubMed Central
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