The Finnish genetic heritage in 2022 – from diagnosis to translational research
The Finnish genetic heritage in 2022 – from diagnosis to translational research
About this item
Full title
Author / Creator
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 and Hinttala, Reetta
Publisher
Cambridge: The Company of Biologists Ltd
Journal title
Language
English
Formats
Publication information
Publisher
Cambridge: The Company of Biologists Ltd
Subjects
More information
Scope and Contents
Contents
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. Intere...
Alternative Titles
Full title
The Finnish genetic heritage in 2022 – from diagnosis to translational research
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_2a119f42fcfd41c2a9c6dcffb987c478
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2a119f42fcfd41c2a9c6dcffb987c478
Other Identifiers
ISSN
1754-8403
E-ISSN
1754-8411
DOI
10.1242/dmm.049490
