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Database for the mutations of the Finnish disease heritage
Author(s) -
Sipilä Kati,
Aula Pertti
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.10019
Subject(s) - biology , database , disease , genetics , computational biology , computer science , medicine , pathology
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. Hum Mutat 19:16–22, 2002. © 2001 Wiley‐Liss, Inc.