title: Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
abstract: We have detected four different mutations in the porphobilinogen deaminase (PBGD) gene in acute intermittent porphyria (AIP) families from England, Norway, and Sweden. A splicing mutation in the first position of intron 8 (Int8 + 1) was found in a family from England and a missense mutation in exon 12 (Glu250) was detected in a Norwegian family. Two mutations were identified in Swedish families, one splicing mutation in the first position of intron 3 (Int3 + 1) and one missense mutation in exon 8 (Pro119).
authors.affiliation: Department of Clinical Genetics/Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
authors.forename: G
authors.initials: G
authors.lastname: Lundin
authors.forename: J
authors.initials: J
authors.lastname: Hashemi
authors.forename: Y
authors.initials: Y
authors.lastname: Floderus
authors.forename: S
authors.initials: S
authors.lastname: Thunell
authors.forename: E
authors.initials: E
authors.lastname: Sagen
authors.forename: A
authors.initials: A
authors.lastname: Laegreid
authors.forename: W
authors.initials: W
authors.lastname: Wassif
authors.forename: T
authors.initials: T
authors.lastname: Peters
authors.forename: M
authors.initials: M
authors.lastname: Anvret
mesh_terms: D000208:Acute Disease; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics*; D012326:RNA Splicing
chemical_list: D017931:DNA Primers; D011163:Hydroxymethylbilane Synthase