The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype.

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The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment Leo A.J. Kluijtmans, Godfried H.J. Boers, Jan P. Kraus, Lambert P. W.J. van den Heuvel, Johan R.M. Cruysberg, Frans J.M. Trijbels, Henk J. Blom The American Journal of Human Genetics Volume 65, Issue 1, Pages 59-67 (July 1999) DOI: 10.1086/302439 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 CBS activities measured in an E. coli expression system. Mutations were introduced as described in the Patients, Material, and Methods section. Bacterial lysates were assayed for CBS activity, and the mean CBS activity of a control construct (40.3 nmol cystathionine formed/mg protein/h) has been set to 100%. Each bar represents another mutated construct and is the mean of two independently performed CBS assays. The American Journal of Human Genetics 1999 65, 59-67DOI: (10.1086/302439) Copyright © 1999 The American Society of Human Genetics Terms and Conditions