Publication Records

FREIBERGER, Tomáš, Lenka KOLÁŘOVÁ, Pavel MEJSTŘÍK, Martina VYSKOČILOVÁ, Pavel KUKLÍNEK and Jiří LITZMAN. Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema. Human Mutation. 2002, vol. 19, No 4, p. 461-466. ISSN 1059-7794.

SOKOLOVÁ, Jitka, B. JANOŠÍKOVÁ, JD TERWILLIGER, Tomáš FREIBERGER, JP KRAUS and Viktor KOŽICH. Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Human Mutation. 2001, vol. 18, No 6, 2 pp. ISSN 1059-7794.