A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets

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dc.contributor.authorMalloy, PJ
dc.contributor.authorXu, R
dc.contributor.authorCattani, A
dc.contributor.authorReyes, ML
dc.contributor.authorFeldman, D
dc.date.accessioned2025-01-21T01:07:55Z
dc.date.available2025-01-21T01:07:55Z
dc.date.issued2004
dc.description.abstractA young Chilean boy with severe rickets was found to have hereditary vitamin D-resistant rickets without alopecia. He had a unique insertion/substitution mutation in the ligand-binding domain of the vitamin D receptor. The in-frame mutation disrupted ligand binding and co-activator binding and resulted in 1,25(OH)(2)D-3 resistance.
dc.description.funderNIDDK NIH HHS
dc.fuente.origenWOS
dc.identifier.doi10.1359/jbmr.2004.19.6.1018
dc.identifier.eissn1523-4681
dc.identifier.issn0884-0431
dc.identifier.urihttps://doi.org/10.1359/jbmr.2004.19.6.1018
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/96399
dc.identifier.wosidWOS:000221573400018
dc.issue.numero6
dc.language.isoen
dc.pagina.final1024
dc.pagina.inicio1018
dc.revistaJournal of bone and mineral research
dc.rightsacceso restringido
dc.subjectinsertion/substitution
dc.subjectligand binding
dc.subjectvitamin D receptor
dc.subjectresistance
dc.subjectmutation
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleA unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets
dc.typeartículo
dc.volumen19
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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