title: Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
abstract: We used single-strand conformational polymorphism and nucleotide sequencing to characterize defective cystathionine beta-synthase gene alleles in 18 independent Irish patients with homocystinuria. Six mutations were detected, three of which have been reported previously and three of which were novel. The novel mutations include T302C (L101P), C684G (N228K), and G1063C (A354P). Of the three, only T302C (L101P) was somewhat prevalent, being found in 3 of 37 independent alleles.
authors.affiliation: Neuropathology Department, Beaumont Hospital, Dublin, 9, Ireland.
authors.forename: P M
authors.initials: PM
authors.lastname: Gallagher
authors.forename: E
authors.initials: E
authors.lastname: Naughten
authors.forename: N Q
authors.initials: NQ
authors.lastname: Hanson
authors.forename: K
authors.initials: K
authors.lastname: Schwichtenberg
authors.forename: M
authors.initials: M
authors.lastname: Bignell
authors.forename: M
authors.initials: M
authors.lastname: Yuan
authors.forename: P
authors.initials: P
authors.lastname: Ward
authors.forename: S
authors.initials: S
authors.lastname: Yap
authors.forename: A S
authors.initials: AS
authors.lastname: Whitehead
authors.forename: M Y
authors.initials: MY
authors.lastname: Tsai
mesh_terms: D003541:Cystathionine beta-Synthase / Q000235:genetics*; D006712:Homocystinuria / Q000235:genetics*; D006801:Humans; D007494:Ireland; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D003541:Cystathionine beta-Synthase