DOI: 10.1055/s-00000129

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Sokolova J, Janosikova B, Terwilliger JD. et al.
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. 
Hum Mutat 2001; 18: 548-549  

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