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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主要な著者: Janošík, Miroslav, Sokolová, Jitka, Janošíková, Bohumila, Krijt, Jakub, Klatovská, Veronika, Kožich, Viktor
フォーマット: Artigo
言語:Inglês
出版事項: Mosby 2009
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2653617/
https://ncbi.nlm.nih.gov/pubmed/18950795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2008.09.015
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