Database for the mutations of the Finnish disease heritage

被引：17

作者：

Sipilä, K ^{[1
]}

Aula, P ^{[1
]}

机构：

[1] Univ Helsinki, Dept Med Genet, Biomedicum Helsinki, Helsinki 00014, Finland

来源：

HUMAN MUTATION | 2002年 / 19卷 / 01期

关键词：

database; Finnish; bioinformatics; mendelian disease; founder effect;

D O I：

10.1002/humu.10019

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2001 Wiley-Liss, Inc.

引用

页码：16 / 22

页数：7

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