title: Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.
abstract: We describe four new mutations in the cystathionine beta-synthase gene: three point mutations localized in exons 3, 9 and 10 and one mutation in exon 12 which results in stop codon.
authors.affiliation: Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Coudé
authors.forename: J
authors.initials: J
authors.lastname: Aupetit
authors.forename: M T
authors.initials: MT
authors.lastname: Zabot
authors.forename: P
authors.initials: P
authors.lastname: Kamoun
authors.forename: B
authors.initials: B
authors.lastname: Chadefaux-Vekemans
mesh_terms: D003241:Consanguinity; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005091:Exons; D006712:Homocystinuria / Q000201:enzymology / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D003541:Cystathionine beta-Synthase