title: Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.
authors.affiliation: Department of Pediatrics, Federico II University, Naples, Italy.
authors.forename: M P
authors.initials: MP
authors.lastname: Sperandeo
authors.forename: M
authors.initials: M
authors.lastname: Panico
authors.forename: A
authors.initials: A
authors.lastname: Pepe
authors.forename: M
authors.initials: M
authors.lastname: Candito
authors.forename: R
authors.initials: R
authors.lastname: de Franchis
authors.forename: J P
authors.initials: JP
authors.lastname: Kraus
authors.forename: G
authors.initials: G
authors.lastname: Andria
authors.forename: G
authors.initials: G
authors.lastname: Sebastio
mesh_terms: D001483:Base Sequence; D003541:Cystathionine beta-Synthase / Q000172:deficiency*; D005060:Europe; D005091:Exons; D006712:Homocystinuria / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion
chemical_list: D003541:Cystathionine beta-Synthase