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

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

doi:10.1371/journal.pone.0237803

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Open Access

Peer-reviewed

Research Article

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

Annalaura Torella,

Roles Data curation, Validation, Writing – original draft

Affiliations Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy
⨯
Mariateresa Zanobio,

Roles Data curation, Formal analysis

Affiliation Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy
⨯
Roberta Zeuli,

Roles Data curation, Formal analysis

Affiliation Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy
⨯
Francesca del Vecchio Blanco,

Roles Data curation, Formal analysis, Validation

Affiliation Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy
⨯
Marco Savarese,

Roles Data curation, Formal analysis

Affiliations Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland
⨯
Teresa Giugliano,

Roles Data curation, Formal analysis, Methodology

Affiliation Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy
⨯
Arcomaria Garofalo,

Roles Data curation, Formal analysis

Affiliation Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy
⨯
Giulio Piluso,

Roles Data curation, Formal analysis, Writing – original draft

Affiliation Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy
⨯
Luisa Politano,

Roles Data curation, Validation

Affiliation Dipartimento di Medicina Sperimentale, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy
⨯
Vincenzo Nigro

Roles Conceptualization, Supervision, Writing – original draft, Writing – review & editing

* E-mail: vincenzo.nigro@unicampania.it

Affiliations Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy

http://orcid.org/0000-0002-3378-5006

⨯

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

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

Published: August 19, 2020
https://doi.org/10.1371/journal.pone.0237803

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Nonsense mutation
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Duchenne muscular dystrophy
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Mutation
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Messenger RNA
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Protein translation
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