Caricamento...

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

Some individuals with a particular disease-causing mutation or genotype fail to express most if not all features of the disease in question, a phenomenon that is known as ‘reduced (or incomplete) penetrance’. Reduced penetrance is not uncommon; indeed, there are many known examples of ‘disease-causi...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Cooper, David N., Krawczak, Michael, Polychronakos, Constantin, Tyler-Smith, Chris, Kehrer-Sawatzki, Hildegard
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2013
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3778950/
https://ncbi.nlm.nih.gov/pubmed/23820649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-013-1331-2
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !