Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorpt...
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
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Author / Creator
Morey, Marcos , Castro-Feijóo, Lidia , Barreiro, Jesús , Cabanas, Paloma , Pombo, Manuel , Gil, Marta , Bernabeu, Ignacio , Díaz-Grande, José M , Rey-Cordo, Lourdes , Ariceta, Gema , Rica, Itxaso , Nieto, José , Vilalta, Ramón , Martorell, Loreto , Vila-Cots, Jaime , Aleixandre, Fernando , Fontalba, Ana , Soriano-Guillén, Leandro , García-Sagredo, José M , García-Miñaur, Sixto , Rodríguez, Berta , Juaristi, Saioa , García-Pardos, Carmen , Martínez-Peinado, Antonio , Millán, José M , Medeira, Ana , Moldovan, Oana , Fernandez, Angeles and Loidi, Lourdes
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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More information
Scope and Contents
Contents
Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene. The purpose of this study was to perform ge...
Alternative Titles
Full title
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
Authors, Artists and Contributors
Author / Creator
Castro-Feijóo, Lidia
Barreiro, Jesús
Cabanas, Paloma
Pombo, Manuel
Gil, Marta
Bernabeu, Ignacio
Díaz-Grande, José M
Rey-Cordo, Lourdes
Ariceta, Gema
Rica, Itxaso
Nieto, José
Vilalta, Ramón
Martorell, Loreto
Vila-Cots, Jaime
Aleixandre, Fernando
Fontalba, Ana
Soriano-Guillén, Leandro
García-Sagredo, José M
García-Miñaur, Sixto
Rodríguez, Berta
Juaristi, Saioa
García-Pardos, Carmen
Martínez-Peinado, Antonio
Millán, José M
Medeira, Ana
Moldovan, Oana
Fernandez, Angeles
Loidi, Lourdes
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ac71c3cc4a06460a9ff4435700414d83
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ac71c3cc4a06460a9ff4435700414d83
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/1471-2350-12-116
