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

MILLA, ELENA; Laguna, Javier; Alforja, Socorro; Pascual, Beatriz; GAMUNDI RODRIGUEZ, MARIA JOSE; Borràs, Emma; Carballo, Miguel; HERNAN SENDRA, IMMA

dc.contributor	Consorci Sanitari de Terrassa
dc.contributor.author	MILLA, ELENA
dc.contributor.author	Laguna, Javier
dc.contributor.author	Alforja, Socorro
dc.contributor.author	Pascual, Beatriz
dc.contributor.author	GAMUNDI RODRIGUEZ, MARIA JOSE
dc.contributor.author	Borràs, Emma
dc.contributor.author	Carballo, Miguel
dc.contributor.author	HERNAN SENDRA, IMMA
dc.date.accessioned	2024-03-19T08:53:04Z
dc.date.available	2024-03-19T08:53:04Z
dc.date.issued	2024-01-19
dc.identifier.citation	Milla 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.issn	1932-6203
dc.identifier.uri	https://hdl.handle.net/11351/11205
dc.description	Genetica; Glaucoma; Detección
dc.format.mimetype	pdf
dc.language.iso	eng
dc.publisher	Public Library of Science
dc.relation.ispartofseries	PLoS One;19 (1)
dc.rights	Attribution 4.0 International
dc.rights.uri	http://creativecommons.org/licenses/by/4.0/
dc.source	Scientia
dc.subject	Genètica
dc.subject	Glaucoma
dc.subject.mesh	Genetic Predisposition to Disease
dc.subject.mesh	Glaucoma
dc.title	Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
dc.type	info:eu-repo/semantics/article
dc.identifier.doi	10.1371/journal.pone.0282133
dc.subject.decs	predisposición genética a la enfermedad
dc.subject.decs	glaucoma
dc.relation.publishversion	http://doi.org/10.1371/journal.pone.0282133
dc.type.version	info:eu-repo/semantics/publishedVersion
dc.audience	Professionals
dc.contributor.organismes	Institut 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.pmid	38241218
dc.rights.accessrights	info:eu-repo/semantics/openAccess