Bottlenecks in molecular testing for rare genetic diseases
Identifieur interne : 000487 ( Istex/Corpus ); précédent : 000486; suivant : 000488Bottlenecks in molecular testing for rare genetic diseases
Auteurs : Patrick J. WillemsSource :
- Human Mutation [ 1059-7794 ] ; 2008-06.
English descriptors
Abstract
Despite the impressive progress in our understanding of the genetic causes of genetic diseases over the past decade, molecular diagnosis for rare genetic disorders is still in its infancy, being slow, expensive, unreliable, insufficient, and ill‐organized in many countries. This leaves the gap between the hype of the current genomic research and the hope for a simple genetic diagnosis too large for patients and families affected with genetic disease. The bottlenecks in the molecular testing for rare genetic disorders are discussed below. Hum Mutat 29(6), 772–775, 2008. © 2008 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.20756
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ISTEX:9108A82D98FD31B3576E633531E0C30EF90856A4Le document en format XML
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