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Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

dc.contributor.authorBernabeu Morón, Ignacio 
dc.contributor.authorLoidi Fernández, Lourdes
dc.contributor.authorPombo Arias, Manuel 
dc.contributor.authorCabanas Rodríguez, Paloma 
dc.contributor.authorCastro Feijoo, Lidia 
dc.contributor.authorBarreiro Conde, Jesús 
dc.contributor.authorGil Calvo, Marta 
dc.contributor.authorMorey Villar, Marcos
dc.contributor.authorRodríguez Sánchez, Berta 
dc.contributor.authorRey Cordo, Carmen Lourdes 
dc.date.accessioned2017-06-07T07:22:50Z
dc.date.available2017-06-07T07:22:50Z
dc.date.issued2011
dc.identifier.issn1471-2350
dc.identifier.urihttp://hdl.handle.net/20.500.11940/5774
dc.language.isoeng
dc.titleGenetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
dc.typeArtigoes
dc.authorsophosMorey, Marcos
dc.authorsophosCastro-Feijóo, Lidia
dc.authorsophosBarreiro, Jesús
dc.authorsophosCabanas, Paloma
dc.authorsophosPombo, Manuel
dc.authorsophosGil, Marta
dc.authorsophosBernabeu, Ignacio
dc.authorsophosDíaz-Grande, José M
dc.authorsophosRey-Cordo, Lourdes
dc.authorsophosAriceta, Gema
dc.authorsophosRica, Itxaso
dc.authorsophosNieto, José
dc.authorsophosVilalta, Ramón
dc.authorsophosMartorell, Loreto
dc.authorsophosVila-Cots, Jaime
dc.authorsophosAleixandre, Fernando
dc.authorsophosFontalba, Ana
dc.authorsophosSoriano-Guillén, Leandro
dc.authorsophosGarcía-Sagredo, José M
dc.authorsophosGarcía-Miñaur, Sixto
dc.authorsophosRodríguez, Berta
dc.authorsophosJuaristi, Saioa
dc.authorsophosGarcía-Pardos, Carmen
dc.authorsophosMartínez-Peinado, Antonio
dc.authorsophosMillán, José M
dc.authorsophosMedeira, Ana
dc.authorsophosMoldovan, Oana
dc.authorsophosFernandez, Angeles
dc.authorsophosLoidi, Lourdes
dc.authorsophosM., Morey
dc.authorsophosL., Castro-Feijoo
dc.authorsophosJ., Barreiro
dc.authorsophosP., Cabanas
dc.authorsophosM., Pombo
dc.authorsophosM., Gil
dc.authorsophosI., Bernabeu
dc.authorsophosJ.M., Diaz-Grande
dc.authorsophosL., Rey-Cordo
dc.authorsophosG., Ariceta
dc.authorsophosI., Rica
dc.authorsophosJ., Nieto
dc.authorsophosR., Vilalta
dc.authorsophosL., Martorell
dc.authorsophosJ., Vila-Cots
dc.authorsophosF., Aleixandre
dc.authorsophosA., Fontalba Fernandez
dc.authorsophosL., Soriano-Guillen
dc.authorsophosJ.M., Garcia-Sagredo
dc.authorsophosS., Garcia-Minaur
dc.authorsophosB., Rodriguez
dc.authorsophosS., Juaristi
dc.authorsophosC., Garcia-Pardos
dc.authorsophosA., Martinez-Peinado Medeira
dc.authorsophosJ.M., Millan
dc.authorsophosO., Moldovan
dc.authorsophosL., Loidi
dc.identifier.doi10.1186/1471-2350-12-116
dc.identifier.isi295778300001
dc.identifier.pmid21902834
dc.identifier.sophos10212
dc.issue.number116
dc.journal.titleBMC Medical Genetics
dc.organizationConsellería de Sanidade::Fundación pública Galega de Medicina Xenómica
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Endocrinoloxía
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Pediatría
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Vigo - Complexo Hospitalario Universitario de Vigo::Pediatría
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de A Coruña - Complexo Hospitalario Universitario A Coruña::Xenética
dc.rights.accessRightsopenAccess
dc.typesophosArtículo Original
dc.volume.number12


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