title: Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
abstract: A total of 12 mutations associated with acute intermittent porphyria (AIP) have been detected in the porphobilinogen deaminase gene in Swedish AIP families. Three of them are newly discovered and unique to the Swedish population: a splice mutation in intron 6 (int6+1), a missense mutation in exon 11 (Gly216Asp) and a TG deletion in exon 14.
authors.affiliation: Department of Molecular Medicine/Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: G
authors.initials: G
authors.lastname: Lundin
authors.forename: J S
authors.initials: JS
authors.lastname: Lee
authors.forename: S
authors.initials: S
authors.lastname: Thunell
authors.forename: M
authors.initials: M
authors.lastname: Anvret
mesh_terms: D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D007438:Introns; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000201:enzymology / Q000235:genetics*; D012326:RNA Splicing; D017384:Sequence Deletion; D013548:Sweden
chemical_list: D011163:Hydroxymethylbilane Synthase