title: Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.
abstract: Direct sequencing of the coding region of the cystathionine beta-synthase (CBS) gene in two homocystinuric patients revealed the presence of two novel missense mutations. The first mutation, a 1111G-->A transition, resulted in the substitution of the evolutionary conserved valine-371 by a methionine residue (V371M) and created a new NlaIII restriction site. The second mutation, a G-->A transition at base-pair 494, resulted in an amino acid change from cysteine to tyrosine (C165Y) and abolished a BsoFI restriction site. Both mutations were found in a compound heterozygous state with the previously described 833T-->C transition.
authors.affiliation: Department of Paediatrics, University Hospital Nijmegen, The Netherlands.
authors.forename: L A
authors.initials: LA
authors.lastname: Kluijtmans
authors.forename: H J
authors.initials: HJ
authors.lastname: Blom
authors.forename: G H
authors.initials: GH
authors.lastname: Boers
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
authors.forename: F J
authors.initials: FJ
authors.lastname: Trijbels
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D006579:Heterozygote; D006712:Homocystinuria / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D016364:Reading Frames / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity
chemical_list: D003541:Cystathionine beta-Synthase