Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

Elisabete Hernández-Imaz; Yolanda Martín; Laura de Conti; German Melean; Ana Valero; Marco Baralle; Concepción Hernández-Chico

doi:10.1371/journal.pone.0141735

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Peer-reviewed

Research Article

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

Elisabete Hernández-Imaz,

Current address: International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy

Affiliations Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Yolanda Martín,

Affiliations Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Laura de Conti,

Affiliation International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy
⨯
German Melean,

Current address: Centro de Genética Molecular, La Paz, Bolivia

Affiliations Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Ana Valero,

Affiliations Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Marco Baralle,

Affiliation International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy
⨯
Concepción Hernández-Chico

* E-mail: chchico@salud.madrid.org

Affiliations Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

Elisabete Hernández-Imaz,
Yolanda Martín,
Laura de Conti,
German Melean,
Ana Valero,
Marco Baralle,
Concepción Hernández-Chico

Published: October 28, 2015
https://doi.org/10.1371/journal.pone.0141735

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