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Database for the mutations of the Finnish disease heritage

2001; Wiley; Volume: 19; Issue: 1 Linguagem: Inglês

10.1002/humu.10019

1098-1004

Kati Sipilä, Perttì Aula,

Adrenal Hormones and Disorders

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.