Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

Ferdos Alaa el Din; Sylvie Patri; Vincent Thoreau; Montserrat Rodriguez-Ballesteros; Eva Hamade; Sabine Bailly; Brigitte Gilbert-Dussardier; Raghida Abou Merhi; Alain Kitzis

doi:10.1371/journal.pone.0132111

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Peer-reviewed

Research Article

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

Ferdos Alaa el Din,

Affiliations Genetics of rare diseases, University of Poitiers, Poitiers, France, Lebanese University Campus Hariri, Faculty of Science / EDST, Hadath, Lebanon
⨯
Sylvie Patri ,

* E-mail: sylvie.patri@chu-poitiers.fr (SP); raboumerhi@ul.edu.lb (RAM)

Affiliations Genetics of rare diseases, University of Poitiers, Poitiers, France, Department of Genetics, University Hospital of Poitiers, Poitiers, France
⨯
Vincent Thoreau,

Affiliation Genetics of rare diseases, University of Poitiers, Poitiers, France
⨯
Montserrat Rodriguez-Ballesteros,

Affiliations Genetics of rare diseases, University of Poitiers, Poitiers, France, Department of Genetics, University Hospital of Poitiers, Poitiers, France
⨯
Eva Hamade,

Affiliation Lebanese University Campus Hariri, Faculty of Science / EDST, Hadath, Lebanon
⨯
Sabine Bailly,

Affiliation INSERM U1036, CEA of Grenoble, Grenoble, France
⨯
Brigitte Gilbert-Dussardier,

Affiliations Genetics of rare diseases, University of Poitiers, Poitiers, France, Department of Genetics, University Hospital of Poitiers, Poitiers, France, Competence Centre of Rendu-Osler, University Hospital of Poitiers, Poitiers, France
⨯
Raghida Abou Merhi ,

* E-mail: sylvie.patri@chu-poitiers.fr (SP); raboumerhi@ul.edu.lb (RAM)

Affiliation Lebanese University Campus Hariri, Faculty of Science / EDST, Hadath, Lebanon
⨯
Alain Kitzis

Affiliations Genetics of rare diseases, University of Poitiers, Poitiers, France, Department of Genetics, University Hospital of Poitiers, Poitiers, France
⨯

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

Ferdos Alaa el Din,
Sylvie Patri,
Vincent Thoreau,
Montserrat Rodriguez-Ballesteros,
Eva Hamade,
Sabine Bailly,
Brigitte Gilbert-Dussardier,
Raghida Abou Merhi,
Alain Kitzis

Published: July 15, 2015
https://doi.org/10.1371/journal.pone.0132111

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