Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B

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dc.contributor.authorAcuna, M.
dc.contributor.authorMartinez, P.
dc.contributor.authorMoraga, C.
dc.contributor.authorHe, X.
dc.contributor.authorMoraga, M.
dc.contributor.authorHunter, B.
dc.contributor.authorNuernberg, P.
dc.contributor.authorGutiérrez Ilabaca, Rodrigo Antonio
dc.contributor.authorGonzalez, M.
dc.contributor.authorSchuchman, E.
dc.contributor.authorSantos Martín, José Luis
dc.contributor.authorMiquel P., Juan Francisco
dc.contributor.authorMabe, P.
dc.contributor.authorZanlungo Matsuhiro, Silvana
dc.date.accessioned2020-07-11T02:08:31Z
dc.date.available2020-07-11T02:08:31Z
dc.date.issued2016
dc.format.extent6 páginas
dc.fuente.origenConveris
dc.identifier.doi10.1038/ejhg.2015.89
dc.identifier.issn1018-4813
dc.identifier.urihttps://doi.org/10.1038/ejhg.2015.89
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/31652
dc.language.isoen
dc.pagina.final213
dc.pagina.inicio208
dc.revistaEuropean Journal of Human Geneticses_ES
dc.rightsacceso abierto
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.otherEnfermedad de Niemann-Pickes_ES
dc.subject.otherEnfermedades hepáticases_ES
dc.subject.otherEnfermedades hereditariases_ES
dc.titleEpidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type Bes_ES
dc.typeartículo
dc.volumenVol. 24
sipa.codpersvinculados86782
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