Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Jonàs Juan-Mateu; Lidia González-Quereda; Maria José Rodríguez; Edgard Verdura; Kira Lázaro; Cristina Jou; Andrés Nascimento; Cecilia Jiménez-Mallebrera; Jaume Colomer; Soledad Monges; Fabiana Lubieniecki; Maria Eugenia Foncuberta; Samuel Ignacio Pascual-Pascual; Jesús Molano; Montserrat Baiget; Pia Gallano

doi:10.1371/journal.pone.0059916

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Peer-reviewed

Research Article

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Jonàs Juan-Mateu,

Affiliations Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain, Universitat de Barcelona (UB), Barcelona, Spain
⨯
Lidia González-Quereda,

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain
⨯
Maria José Rodríguez,

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain
⨯
Edgard Verdura,

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain
⨯
Kira Lázaro,

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain
⨯
Cristina Jou,

Affiliation Servei d'Anatomia Patològica Hospital Sant Joan de Déu, Barcelona, Spain
⨯
Andrés Nascimento,

Affiliation Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Déu, Barcelona, Spain
⨯
Cecilia Jiménez-Mallebrera,

Affiliation Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Déu, Barcelona, Spain
⨯
Jaume Colomer,

Affiliation Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Déu, Barcelona, Spain
⨯
Soledad Monges,

Affiliation Servicio de Neuropediatría, Hospital Nacional Pediátrico Garrahan, Buenos Aires, Argentina
⨯
Fabiana Lubieniecki,

Affiliation Servicio de Patología, Hospital Nacional Pediátrico Garrahan, Buenos Aires, Argentina
⨯
Maria Eugenia Foncuberta,

Affiliation Servicio de Genética, Hospital Nacional Pediátrico Garrahan, Buenos Aires, Argentina
⨯
Samuel Ignacio Pascual-Pascual,

Affiliation Servicio de Neurología Pediátrica, Hospital Universitario Materno Infantil La Paz, Madrid, Spain
⨯
Jesús Molano,

Affiliation Unidad de Genética Molecular and CIBERER U753, Hospital Universitario Materno Infantil La Paz, Madrid, Spain
⨯
Montserrat Baiget,

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain
⨯
[ ... ],
Pia Gallano

* E-mail: pgallano@santpau.cat

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain
⨯
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Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Jonàs Juan-Mateu,
Lidia González-Quereda,
Maria José Rodríguez,
Edgard Verdura,
Kira Lázaro,
Cristina Jou,
Andrés Nascimento,
Cecilia Jiménez-Mallebrera,
Jaume Colomer,
Soledad Monges

Published: March 25, 2013
https://doi.org/10.1371/journal.pone.0059916

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Nonsense mutation
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Point mutation
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Frameshift mutation
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