The Journal of Pediatrics
Volume 154, Issue 3 , Pages 431-437, March 2009

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

Institute of Inherited Metabolic Disorders, Charles University in Prague—1st Faculty of Medicine, Prague, Czech Republic

Received 19 May 2008; received in revised form 11 August 2008; accepted 4 September 2008. published online 28 October 2008.

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 Supported by the Wellcome Trust International Senior Research Fellowship in Biomedical Science in Central Europe (reg. No 070255/Z/03/Z). Institutional support was provided by the Research Project of the Ministry of Education of the Czech Republic (reg. No MSM0021620806). The authors declare no conflict of interests.

PII: S0022-3476(08)00779-8

doi:10.1016/j.jpeds.2008.09.015

The Journal of Pediatrics
Volume 154, Issue 3 , Pages 431-437, March 2009

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