Mendelian disorders deserve more attention

Détails

ID Serval
serval:BIB_802728564A14
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Mendelian disorders deserve more attention
Périodique
Nature Reviews. Genetics
Auteur(s)
Antonarakis  S. E., Beckmann  J. S.
ISSN
1471-0056 (Print)
Statut éditorial
Publié
Date de publication
04/2006
Volume
7
Numéro
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
Résumé
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.
Mots-clé
Animals Genetic Diseases, Inborn/*diagnosis/*genetics Genetics, Medical/*trends Humans Mice Models, Genetic Multifactorial Inheritance/*genetics
Pubmed
Web of science
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
20/08/2019 15:40
Données d'usage