Article
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Disease models & mechanisms - 1 Oct 2022
Uusimaa Johanna, Kettunen Johannes, Varilo Teppo, Järvelä Irma, Kallijärvi Jukka, Kääriäinen Helena, Laine Minna, Lapatto Risto, Myllynen Päivi, Niinikoski Harri, Rahikkala Elisa, Suomalainen Anu, Tikkanen Ritva, Tyynismaa Henna, Vieira Päivi, Zarybnicky Tomas, Sipilä Petra, Kuure Satu, Hinttala Reetta
Abstract excerpt
Isolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of hereditary monogenic disorders caused by single major, usually autosomal-recessive, variants enriched in the population due to several past genetic drift events. Interestingly, distinct subpopulations have remained in Finland and have...
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