title: [Mutation diagnosis is a possibility for the half of the families with acute intermittent porphyria].
authors.affiliation: Samtliga vid kliniskt genetiska laboratoriet, Karolinska sjukhuset, Stockholm.
authors.forename: M
authors.initials: M
authors.lastname: Anvret
authors.forename: J S
authors.initials: JS
authors.lastname: Lee
authors.forename: G
authors.initials: G
authors.lastname: Lundin
mesh_terms: D000208:Acute Disease; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D011164:Porphyrias / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D013548:Sweden / Q000453:epidemiology
vernacular_title: Mutationsdiagnostik möjlig för hälften av familjerna med akut intermittent porfyri.