title: Database for the mutations of the Finnish disease heritage.
abstract: The Finnish disease heritage refers to a group of monogenic diseases that are enriched in the Finnish population due to founder effect and genetic isolation. The molecular genetics of these diseases has recently been intensely studied, and several founder and private mutations have been identified. The purpose of the present study was to create a database of the presently known mutations of the Finnish disease heritage.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
authors.forename: Kati
authors.initials: K
authors.lastname: Sipilä
authors.forename: Pertti
authors.initials: P
authors.lastname: Aula
mesh_terms: D030541:Databases, Genetic; D005387:Finland; D030342:Genetic Diseases, Inborn / Q000209:etiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000209:etiology; D006801:Humans; D020407:Internet; D009154:Mutation / Q000235:genetics*