Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site

• Ainhoa Martínez-Pizarro,

  Roles Formal analysis, Investigation, Visualization, Writing – original draft

  Affiliation Centro de Biología Molecular Severo Ochoa UAM-CSIC, CEDEM, CIBERER, IdiPaz, Universidad Autónoma, Madrid, Spain

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• Maja Dembic,

  Roles Formal analysis, Investigation, Methodology, Project administration, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark

  http://orcid.org/0000-0003-2505-6863

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• Belén Pérez,

  Roles Resources, Validation

  Affiliation Centro de Biología Molecular Severo Ochoa UAM-CSIC, CEDEM, CIBERER, IdiPaz, Universidad Autónoma, Madrid, Spain

  http://orcid.org/0000-0002-3190-1958

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• Brage S. Andresen ,

  Roles Conceptualization, Formal analysis, Funding acquisition, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: bragea@bmb.sdu.dk (BSA); lruiz@cbm.csic.es (LRD)

  ¶‡ These authors shared senior authorship.

  Affiliation Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark

  http://orcid.org/0000-0001-7488-3035

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• Lourdes R. Desviat

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: bragea@bmb.sdu.dk (BSA); lruiz@cbm.csic.es (LRD)

  ¶‡ These authors shared senior authorship.

  Affiliation Centro de Biología Molecular Severo Ochoa UAM-CSIC, CEDEM, CIBERER, IdiPaz, Universidad Autónoma, Madrid, Spain

  http://orcid.org/0000-0003-0492-3323

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