Article
Knockout mouse models as a resource for the study of rare diseases.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jun 2023
da Silva-Buttkus Patricia, Spielmann Nadine, Klein-Rodewald Tanja, Schütt Christine, Aguilar-Pimentel Antonio, Amarie Oana V, Becker Lore, Calzada-Wack Julia, Garrett Lillian, Gerlini Raffaele, Kraiger Markus, Leuchtenberger Stefanie, Östereicher Manuela A, Rathkolb Birgit, Sanz-Moreno Adrián, Stöger Claudia, Hölter Sabine M, Seisenberger Claudia, Marschall Susan, Fuchs Helmut, Gailus-Durner Valerie, Hrabě de Angelis Martin
Abstract excerpt
Rare diseases (RDs) are a challenge for medicine due to their heterogeneous clinical manifestations and low prevalence. There is a lack of specific treatments and only a few hundred of the approximately 7,000 RDs have an approved regime. Rapid technological development in genome sequencing enables the mass identification of potential candidates that in their mutated form could trigger diseases but are often not...
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