For many human genetic diseases, the underlying geneticdefect has been determined. Thus, although traditionally afield only for researchers in medicine or human genetics,human diseases are now opening up to molecular biologists,cell biologists and biochemists. Here we discuss four humangenetic disorders, Familial Alzheimer’s disease, Rett syndrome,Klippel—Trenaunay syndrome and Facioscapulohumeralmuscular dystrophy, and how investigations into these diseasesare providing important lessons about human biology.
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression / Gabellini, D.; M. R., Green; Tupler, Rossella. - In: CURRENT OPINION IN GENETICS & DEVELOPMENT. - ISSN 0959-437X. - STAMPA. - 14:3(2004), pp. 301-307. [10.1016/j.gde.2004.04.010]
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression.
TUPLER, Rossella
2004
Abstract
For many human genetic diseases, the underlying geneticdefect has been determined. Thus, although traditionally afield only for researchers in medicine or human genetics,human diseases are now opening up to molecular biologists,cell biologists and biochemists. Here we discuss four humangenetic disorders, Familial Alzheimer’s disease, Rett syndrome,Klippel—Trenaunay syndrome and Facioscapulohumeralmuscular dystrophy, and how investigations into these diseasesare providing important lessons about human biology.
Pubblicazioni consigliate
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris
