title: R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria.
authors.affiliation: Dept. of Clin. Biochem., Odense Univ. Hosp., Denmark.
authors.forename: N E
authors.initials: NE
authors.lastname: Petersen
authors.forename: H
authors.initials: H
authors.lastname: Nissen
authors.forename: T S
authors.initials: TS
authors.lastname: Hansen
authors.forename: K
authors.initials: K
authors.lastname: Rasmussen
authors.forename: A
authors.initials: A
authors.lastname: Brock
authors.forename: M
authors.initials: M
authors.lastname: Hørder
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005091:Exons; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008297:Male; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
chemical_list: D011163:Hydroxymethylbilane Synthase