EXON 5 DUPLICATION IN ALPL GENE AS THE GENETIC CAUSE OF HYPOPHOSPATASIA IN A 3 YEAR OLD GIRL

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dc.conference.dateJUN 12-15, 2019
dc.conference.titleAnnual European Congress of Rheumatology (EULAR)
dc.contributor.authorGonzalez-Roca, Eva
dc.contributor.authorMunoz-Torres, Manuela
dc.contributor.authorCarrasco, Pilar
dc.contributor.authorGonzalez-Meneses, Antonio
dc.contributor.authorYahyaoui, Raquel
dc.contributor.authorIsanta, Ricard
dc.contributor.authorMornet, Etienne
dc.contributor.authoraffiliation[Gonzalez-Roca, Eva] Immunol Mol Biol CORE Lab, Barcelona, Spain
dc.contributor.authoraffiliation[Munoz-Torres, Manuela] Hosp Juan Ramon Jimenez, Pediat Palliat Care Unit, Huelva, Spain
dc.contributor.authoraffiliation[Carrasco, Pilar] Hosp Juan Ramon Jimenez, Genet & Mol Biol, Huelva, Spain
dc.contributor.authoraffiliation[Gonzalez-Meneses, Antonio] Hosp Virgen del Rocio, Pediat, Seville, Spain
dc.contributor.authoraffiliation[Yahyaoui, Raquel] Hosp Reg Malaga, Clin Lab, Malaga, Spain
dc.contributor.authoraffiliation[Yahyaoui, Raquel] Hosp Reg Malaga, Newborn Screening Ctr Eastern Andalucia, Malaga, Spain
dc.contributor.authoraffiliation[Isanta, Ricard] Hosp Clin Barcelona, Mol Biol CORE Lab, Barcelona, Spain
dc.contributor.authoraffiliation[Mornet, Etienne] Ctr Hosp Versailles, Serv Biol, Unite Genet Constitut, Le Chesnay, France
dc.date.accessioned2025-01-07T14:39:20Z
dc.date.available2025-01-07T14:39:20Z
dc.date.issued2019-06-01
dc.identifier.doi10.1136/annrheumdis-2019-eular.6703
dc.identifier.essn1468-2060
dc.identifier.issn0003-4967
dc.identifier.unpaywallURLhttps://ard.bmj.com/content/annrheumdis/78/Suppl_2/668.full.pdf
dc.identifier.urihttps://hdl.handle.net/10668/26558
dc.identifier.wosID472207102058
dc.issue.number2
dc.journal.titleAnnals of the rheumatic diseases
dc.journal.titleabbreviationAnn. rheum. dis.
dc.language.isoen
dc.organizationSAS - Hospital Universitario Juan Ramón Jiménez
dc.organizationSAS - Hospital Universitario Regional de Málaga
dc.organizationSAS - Hospital Universitario Virgen del Rocío
dc.page.number668-668
dc.publisherBmj publishing group
dc.rights.accessRightsopen access
dc.titleEXON 5 DUPLICATION IN ALPL GENE AS THE GENETIC CAUSE OF HYPOPHOSPATASIA IN A 3 YEAR OLD GIRL
dc.typeconference output
dc.type.hasVersionVoR
dc.volume.number78
dc.wostypeMeeting Abstract

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