Literature DB >> 11754099

Database for the mutations of the Finnish disease heritage.

Kati Sipilä1, Pertti Aula.   

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. Copyright 2001 Wiley-Liss, Inc.

Mesh:

Year:  2002        PMID: 11754099     DOI: 10.1002/humu.10019

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  2 in total

1.  A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.

Authors:  Wayne A Cabral; Aileen M Barnes; Adebowale Adeyemo; Kelly Cushing; David Chitayat; Forbes D Porter; Susan R Panny; Fizza Gulamali-Majid; Sarah A Tishkoff; Timothy R Rebbeck; Serigne M Gueye; Joan E Bailey-Wilson; Lawrence C Brody; Charles N Rotimi; Joan C Marini
Journal:  Genet Med       Date:  2012-01-26       Impact factor: 8.822

2.  Indian genetic disease database.

Authors:  Sanchari Pradhan; Mainak Sengupta; Anirban Dutta; Kausik Bhattacharyya; Sumit K Bag; Chitra Dutta; Kunal Ray
Journal:  Nucleic Acids Res       Date:  2010-10-30       Impact factor: 16.971

  2 in total

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