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. 2002 Jan;19(1):16-22.
doi: 10.1002/humu.10019.

Database for the mutations of the Finnish disease heritage

Kati Sipilä  1 , Pertti Aula
Affiliations

Database for the mutations of the Finnish disease heritage

Kati Sipilä et al. Hum Mutat. 2002 Jan.

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.

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