title: Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.
authors.forename: R
authors.initials: R
authors.lastname: Castro
authors.forename: S G
authors.initials: SG
authors.lastname: Heil
authors.forename: I
authors.initials: I
authors.lastname: Rivera
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: I T
authors.initials: IT
authors.lastname: de Almeida
authors.forename: H J
authors.initials: HJ
authors.lastname: Blom
mesh_terms: D003541:Cystathionine beta-Synthase / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006712:Homocystinuria / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011174:Portugal
chemical_list: D004247:DNA; D003541:Cystathionine beta-Synthase