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

Autor: Kluijtmans, Leo A.J. *, Boers, Godfried H.J., Kraus, Jan P., van den Heuvel, Lambert P. W.J., Cruysberg, Johan R.M., Trijbels, Frans J.M., Blom, Henk J.
Zdroj: In The American Journal of Human Genetics 1999 65(1):59-67
Databáze: ScienceDirect