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

✍ Scribed by Miroslav Janošík; Jitka Sokolová; Bohumila Janošíková; Jakub Krijt; Veronika Klatovská; Viktor Kožich

• Book ID: 113744939
• Publisher: Elsevier Science
• Year: 2009
• Tongue: English
• Weight: 163 KB
• Volume: 154
• Category: Article
• ISSN: 1097-6833
• DOI: 10.1016/j.jpeds.2008.09.015