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oai:recercat.cat:11351/112052025-10-24T08:28:52Zcom_2072_451660com_2072_378040col_2072_451662

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 Institut Català de la Salut [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 Consorci Sanitari de Terrassa Genètica Glaucoma DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease DISEASES::Eye Diseases::Ocular Hypertension::Glaucoma ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad ENFERMEDADES::oftalmopatías::hipertensión ocular::glaucoma Genètica; Glaucoma; Detecció Genetica; Glaucoma; Detección Genetics; Glaucoma; Screening 2024-03-19T08:53:04Z 2024-03-19T08:53:04Z 2024-01-19 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 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. 1932-6203 https://hdl.handle.net/11351/11205 10.1371/journal.pone.0282133 38241218 http://hdl.handle.net/11351/11205 eng PLoS One;19 (1) http://doi.org/10.1371/journal.pone.0282133 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess pdf application/pdf Public Library of Science Scientia