The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

A nonsense mutation adds a premature stop signal that hinders any further translation of a protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions, we used the DMD gene as an ideal model. First, because dystrophin absence causes Duchenne muscular dystrophy (DM...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:PLoS One
Hlavní autoři: Torella, Annalaura, Zanobio, Mariateresa, Zeuli, Roberta, del Vecchio Blanco, Francesca, Savarese, Marco, Giugliano, Teresa, Garofalo, Arcomaria, Piluso, Giulio, Politano, Luisa, Nigro, Vincenzo
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2020
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7437896/
https://ncbi.nlm.nih.gov/pubmed/32813700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0237803
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky