Show simple item record

 

Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma

dc.contributorConsorci Sanitari de Terrassa
dc.contributor.authorMILLA, ELENA
dc.contributor.authorLaguna, Javier
dc.contributor.authorAlforja, Socorro
dc.contributor.authorPascual, Beatriz
dc.contributor.authorGAMUNDI RODRIGUEZ, MARIA JOSE
dc.contributor.authorBorràs, Emma
dc.contributor.authorCarballo, Miguel
dc.contributor.authorHERNAN SENDRA, IMMA
dc.date.accessioned2024-03-19T08:53:04Z
dc.date.available2024-03-19T08:53:04Z
dc.date.issued2024-01-19
dc.identifier.citationMilla E, Laguna J, Alforja MS, Pascual B, Gamundi MJ, Borràs E, et al. Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma. PLoS One. 2024 Jan 19;19(1):e0282133.
dc.identifier.issn1932-6203
dc.identifier.urihttps://hdl.handle.net/11351/11205
dc.descriptionGenetics; Glaucoma; Screening
dc.format.mimetypepdf
dc.language.isoeng
dc.publisherPublic Library of Science
dc.relation.ispartofseriesPLoS One;19 (1)
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectGenètica
dc.subjectGlaucoma
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshGlaucoma
dc.titleNext-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1371/journal.pone.0282133
dc.subject.decspredisposición genética a la enfermedad
dc.subject.decsglaucoma
dc.relation.publishversionhttp://doi.org/10.1371/journal.pone.0282133
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Milla E] Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain. Innova Ocular-ICO, Barcelona, Spain. [Laguna J] Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, Barcelona, Spain. [Alforja MS] Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain. [Pascual B, Gamundi MJ, Borràs E, Hernán I, Carballo M] Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain
dc.identifier.pmid38241218
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


Files in this item

Thumbnail
Name:
next_generation_sequencing_bas ...
Size:
2.182Mb
Format:
PDF
Description:
Next-generation sequencing-based ...
View

This item appears in the following Collection(s)

Show simple item record