Mendelian disorders deserve more attention

Details

Serval ID
serval:BIB_802728564A14
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Mendelian disorders deserve more attention
Journal
Nature Reviews. Genetics
Author(s)
Antonarakis  S. E., Beckmann  J. S.
ISSN
1471-0056 (Print)
Publication state
Published
Issued date
04/2006
Volume
7
Number
4
Pages
277-82
Notes
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review --- Old month value: Apr
Abstract
The study of inherited monogenic diseases has contributed greatly to our mechanistic understanding of pathogenic mutations and gene regulation, and to the development of effective diagnostic tools. But interest has gradually shifted away from monogenic diseases, which collectively affect only a small fraction of the world's population, towards multifactorial, common diseases. The quest for the genetic variability associated with common traits should not be done at the expense of Mendelian disorders, because the latter could still contribute greatly to understanding the aetiology of complex traits.
Keywords
Animals Genetic Diseases, Inborn/*diagnosis/*genetics Genetics, Medical/*trends Humans Mice Models, Genetic Multifactorial Inheritance/*genetics
Pubmed
Web of science
Create date
25/01/2008 17:18
Last modification date
20/08/2019 15:40
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