The Finnish genetic heritage in 2022 – from diagnosis to translational research

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 populatio...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9637267/
https://www.ncbi.nlm.nih.gov/pubmed/36285626
http://dx.doi.org/10.1242/dmm.049490

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9637267/
https://www.ncbi.nlm.nih.gov/pubmed/36285626
http://dx.doi.org/10.1242/dmm.049490

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