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Article

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

PloS one - 1 Jan 2020

Torella Annalaura, Zanobio Mariateresa, Zeuli Roberta, Del Vecchio Blanco Francesca, Savarese Marco, Giugliano Teresa, Garofalo Arcomaria, Piluso Giulio, Politano Luisa, Nigro Vincenzo

Abstract excerpt

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 (DMD), while its reduction causes Becker muscular dystrophy (BMD). Second, the DMD gene is X-linked and there is no...

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Identifiers

PMID: 32813700
DOI: 10.1371/journal.pone.0237803
PMCID: PMC7437896

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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