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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

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dc.contributor.authorRehman, Atta Ur
dc.contributor.authorSepahi, Neda
dc.contributor.authorBedoni, Nicola
dc.contributor.authorRavesh, Zeinab
dc.contributor.authorSalmaninejad, Arash
dc.contributor.authorCancellieri, Francesca
dc.contributor.authorPeter, Virginie G.
dc.contributor.authorQuinodoz, Mathieu
dc.contributor.authorMojarrad, Majid
dc.contributor.authorPasdar, Alireza
dc.contributor.authorAsad, Ali Ghanbari
dc.contributor.authorGhalamkari, Saman
dc.contributor.authorPiran, Mehran
dc.contributor.authorPiran, Mehrdad
dc.contributor.authorSuperti-Furga, Andrea
dc.contributor.authorRivolta, Carlo
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.date.accessioned2021-11-02T14:38:00Z
dc.date.available2021-11-02T14:38:00Z
dc.date.issued2021-12-01
dc.descriptionFunding Information: We would like to thank all of the participating families. We are also grateful to the Swiss Confederation for the award of a PhD fellowship to AUR, to Mashhad University of Medical Sciences for supporting part of the work, in the framework of the PhD thesis of AS, to the Swiss National Science Foundation for grant # 176097 to CR, and to the Fondation Guillaume Gentil for support to ASF.en
dc.description.statusPeer revieweden
dc.format.extent9
dc.format.extent1068853
dc.identifier207971027
dc.identifier191b485c-4bbc-47c2-9157-daca15bee42f
dc.identifier85116346473
dc.identifier34588515
dc.identifier000702152400010
dc.identifier.citationRehman, A U, Sepahi, N, Bedoni, N, Ravesh, Z, Salmaninejad, A, Cancellieri, F, Peter, V G, Quinodoz, M, Mojarrad, M, Pasdar, A, Asad, A G, Ghalamkari, S, Piran, M, Piran, M, Superti-Furga, A & Rivolta, C 2021, 'Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies', Scientific Reports, vol. 11, no. 1, 19332. https://doi.org/10.1038/s41598-021-98677-3en
dc.identifier.doi10.1038/s41598-021-98677-3
dc.identifier.iss1en
dc.identifier.issn2045-2322
dc.identifier.otherORCID: /0000-0002-7864-9729/work/102536735
dc.identifier.urihttps://hdl.handle.net/2164/17431
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85116346473&partnerID=8YFLogxKen
dc.identifier.vol11en
dc.language.isoeng
dc.relation.ispartofScientific Reportsen
dc.subjectSDG 3 - Good Health and Well-beingen
dc.subjectR Medicine (General)en
dc.subjectGeneralen
dc.subjectOtheren
dc.subject.lccR1en
dc.titleWhole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophiesen
dc.typeJournal articleen

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