Novel splice-affecting variants in CYP27A1 gene in two chilean patients with cerebrotendinous xanthomatosis

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dc.contributor.authorSmalley Meylan, Susan Valerie
dc.contributor.authorPreiss, Yudith
dc.contributor.authorSuazo, José
dc.contributor.authorVega, Javier Andrés
dc.contributor.authorAngellotti, Isidora
dc.contributor.authorLagos F., Carlos
dc.contributor.authorRivera, Enzo
dc.contributor.authorKleinsteuber, Karin
dc.contributor.authorCampion, Javier
dc.contributor.authorMartínez, J. Alfredo
dc.contributor.authorMaíz Gurruchaga, Alberto Luis
dc.contributor.authorSantos Martín, José Luis
dc.date.accessioned2021-01-26T18:30:09Z
dc.date.available2021-01-26T18:30:09Z
dc.date.issued2015
dc.format.extent7 páginas
dc.fuente.origenConveris
dc.identifier.doi10.1590/S1415-475738120140087
dc.identifier.issn1415-4757
dc.identifier.urihttps://doi.org/10.1590/S1415-475738120140087
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/52408
dc.identifier.wosidWOS:000352448600005
dc.issue.numeroNo. 1
dc.language.isoen
dc.nota.accesoContenido completo
dc.pagina.final36
dc.pagina.inicio30
dc.revistaGenetics and Molecular Biologyes_ES
dc.rightsacceso abierto
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titleNovel splice-affecting variants in CYP27A1 gene in two chilean patients with cerebrotendinous xanthomatosises_ES
dc.typeartículo
dc.volumenVol. 38
sipa.codpersvinculados172139
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