Novel immunodeficiency data servers.

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Published in Immunol Rev on December 01, 2000

Authors

J Väliaho1, P Riikonen, M Vihinen

Author Affiliations

1: Institute of Medical Technology, University of Tampere, Finland.

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Peroxisomal multifunctional delta 3,delta 2-enoyl-CoA isomerase, 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase enzyme from rat liver. Identity with peroxisomal bifunctional protein and proposed domain structure. Prog Clin Biol Res (1992) 0.75

[The cardiac effects of Anthracycline]. Duodecim (1996) 0.75

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