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Article

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 - 1 Mar 2009

Janosík Miroslav, Sokolová Jitka, Janosíková Bohumila, Krijt Jakub, Klatovská Veronika, Kozich Viktor

Abstract excerpt

OBJECTIVES: To estimate the frequency of the cystathionine beta-synthase deficiency caused by c.1105C>T mutation in Central Europe compared to Norway, and to examine the pathogenicity of the corresponding p.R369C mutant enzyme. STUDY DESIGN: Mutation c.1105C>T was analyzed in 600 anonymous Czech newborn blood spots. Catalytic activity and quaternary structure of the p.R369C mutant was evaluated after expression...

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PMID: 18950795
DOI: 10.1016/j.jpeds.2008.09.015
PMCID: PMC2653617

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