Genetic carrier detection in Norwegian families with acute intermittent porphyria.
Scand J Clin Lab Invest
; 53(7): 687-91, 1993 Nov.
Article
de En
| MEDLINE
| ID: mdl-7903821
ABSTRACT
Early detection of carriers of acute intermittent porphyria (AIP) is of great value as an assistance for correct diagnosis and prevention of attacks. In order to complement traditional biochemical methods, restriction fragment length polymorphism (RFLP) studies as well as analysis for a previously identified point mutation were included in a study of three Norwegian AIP families. Several asymptomatic carriers could be identified, and the study thus demonstrates the usefulness of the combination of biochemical and genetic analysis.
Recherche sur Google
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Hydroxymethylbilane synthase
/
Polymorphisme de restriction
/
Porphyrie aigüe intermittente
/
Dépistage des porteurs génétiques
Type d'étude:
Diagnostic_studies
/
Screening_studies
Limites:
Female
/
Humans
/
Male
Pays/Région comme sujet:
Europa
Langue:
En
Journal:
Scand J Clin Lab Invest
Année:
1993
Type de document:
Article
Pays d'affiliation:
Norvège