University of Aberdeen logo

AURA - Aberdeen University Research Archive

 

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Simple item page
dc.contributor.authorSalmaninejad, Arash
dc.contributor.authorBedoni, Nicola
dc.contributor.authorRavesh, Zeinab
dc.contributor.authorQuinodoz, Mathieu
dc.contributor.authorShoeibi, Nasser
dc.contributor.authorMojarrad, Majid
dc.contributor.authorPasdar, Alireza
dc.contributor.authorRivolta, Carlo
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.date.accessioned2021-01-25T17:48:00Z
dc.date.available2021-01-25T17:48:00Z
dc.date.issued2020-11-10
dc.descriptionAcknowledgements This research was funded by the Swiss National Science Foundation (Grant #176097 to CR). We would like to express gratitude to the patients and all their family members that participated in this study for their valuable cooperation and participation.en
dc.description.statusPeer revieweden
dc.format.extent7
dc.format.extent2037826
dc.identifier186295587
dc.identifierb37d912d-b103-48ed-aaf4-2c11a3530b08
dc.identifier85095722074
dc.identifier33173045
dc.identifier000595150100004
dc.identifier.citationSalmaninejad, A, Bedoni, N, Ravesh, Z, Quinodoz, M, Shoeibi, N, Mojarrad, M, Pasdar, A & Rivolta, C 2020, 'Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies', Scientific Reports, vol. 10, 19413. https://doi.org/10.1038/s41598-020-75841-9en
dc.identifier.doi10.1038/s41598-020-75841-9
dc.identifier.issn2045-2322
dc.identifier.otherORCID: /0000-0002-7864-9729/work/88320239
dc.identifier.urihttps://hdl.handle.net/2164/15720
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85095722074&partnerID=8YFLogxKen
dc.identifier.vol10en
dc.language.isoeng
dc.relation.ispartofScientific Reportsen
dc.subjectGenetic variationen
dc.subjectGeneticsen
dc.subjectgenomeen
dc.subjectmedical geneticsen
dc.subjectMutationen
dc.subjectR Medicineen
dc.subjectSupplementary Dataen
dc.subject.lccRen
dc.titleWhole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophiesen
dc.typeJournal articleen

Files

Original bundle

Now showing 1 - 1 of 1
Thumbnail Image
Name:
Salmaninejad_WholeExomeSequencing_VOR.pdf
Size:
1.94 MB
Format:
Adobe Portable Document Format
Download

Collections

All research