array:19 [ "pii" => "S0025775320301883" "issn" => "00257753" "doi" => "10.1016/j.medcli.2020.01.032" "estado" => "S300" "fechaPublicacion" => "2020-12-24" "aid" => "5143" "copyright" => "Elsevier España, S.L.U." "documento" => "article" "crossmark" => 1 "subdocumento" => "fla" "cita" => "Med Clin. 2020;155:529-34" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Original article</span>" "titulo" => "Allelic and phenotypic characterization of <span class="elsevierStyleItalic">CYP2D6</span> and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "529" "paginaFinal" => "534" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Caracterización alélica y fenotípica del gen y la enzima Cyp2d6 en una cohorte de pacientes españoles con enfermedad de Gaucher tipo 1" ] ] "contieneResumen" => array:2 [ "en" => true "es" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 606 "Ancho" => 2167 "Tamanyo" => 84197 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0060" class="elsevierStyleSimplePara elsevierViewall">Allele frequency distribution of CYP2D6 in 109 GD1 patients. Observed allele distribution in the studied population. Alleles that encodes for normal activity are in dark grey, the reduced activity alleles are in grey and the null activity encoder alleles are soft grey coloured. The *7, *8, *11, *15 and *29 alleles are not found in our population, so they are not represented on the figure.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Laura López de Frutos, Pilar Alfonso, Carlos Lahoz, Pilar Irún, Pilar Giraldo" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Laura" "apellidos" => "López de Frutos" ] 1 => array:2 [ "nombre" => "Pilar" "apellidos" => "Alfonso" ] 2 => array:2 [ "nombre" => "Carlos" "apellidos" => "Lahoz" ] 3 => array:2 [ "nombre" => "Pilar" "apellidos" => "Irún" ] 4 => array:2 [ "nombre" => "Pilar" "apellidos" => "Giraldo" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2387020620305507" "doi" => "10.1016/j.medcle.2020.01.018" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020620305507?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775320301883?idApp=UINPBA00004N" "url" => "/00257753/0000015500000012/v1_202012131718/S0025775320301883/v1_202012131718/en/main.assets" ]
Información de la revista
Vol. 155. Núm. 12.
Páginas 529-534 (diciembre 2020)
Vol. 155. Núm. 12.
Páginas 529-534 (diciembre 2020)
Original article
Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients
Caracterización alélica y fenotípica del gen y la enzima Cyp2d6 en una cohorte de pacientes españoles con enfermedad de Gaucher tipo 1
Laura López de Frutos, Pilar Alfonso, Carlos Lahoz, Pilar Irún, Pilar Giraldo
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