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

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...

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Bibliographic Details
Main Authors: Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca Del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0237803

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https://doi.org/10.1371/journal.pone.0237803

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