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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

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 Cze...

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Detalles Bibliográficos
Autores principales:	Janošík, Miroslav, Sokolová, Jitka, Janošíková, Bohumila, Krijt, Jakub, Klatovská, Veronika, Kožich, Viktor
Formato:	Texto
Lenguaje:	English
Publicado:	Mosby 2009
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653617/ https://www.ncbi.nlm.nih.gov/pubmed/18950795 http://dx.doi.org/10.1016/j.jpeds.2008.09.015

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