{"id":3651,"date":"1994-01-01T00:00:00","date_gmt":"1994-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/1994\/01\/01\/genetica-molecular-de-la-fenilcetonuria-analisis-de-mutaciones-en-el-gen-de-la-fenilalanina-hidroxilasa\/"},"modified":"1994-01-01T00:00:00","modified_gmt":"1994-01-01T00:00:00","slug":"genetica-molecular-de-la-fenilcetonuria-analisis-de-mutaciones-en-el-gen-de-la-fenilalanina-hidroxilasa","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/genetica-molecular-de-la-fenilcetonuria-analisis-de-mutaciones-en-el-gen-de-la-fenilalanina-hidroxilasa\/","title":{"rendered":"Genetica molecular de la fenilcetonuria. analisis de mutaciones en el gen de la fenilalanina hidroxilasa."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Belen Perez Gonzalez <\/strong><\/h2>\n<p>Se trata de un trabajo sobre las bases moleculares que causan la fenilcetonuria en espa\u00f1a. Ademas, se ha ampliado el estudio a cuatro paises de iberoamerica, para conocer la epidemiolog\u00eda genetica de la enfermedad.  ha sido, por otra parte, encontrada una mutacion no descrita hasta ahora en el gen de la fenilalanina hidroxilasa, la mutacion p244l. La expresion de esa mutacion en celulas cos de mamiferos, ha revelado que produce una ligera reduccion de la actividad del enzima.  por ultimo, han sido estudiadas las causas que producen la fenilcetonuria, basandonos en el estudio de la relacion genotipo-fenotipo.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Genetica molecular de la fenilcetonuria. analisis de mutaciones en el gen de la fenilalanina hidroxilasa.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Genetica molecular de la fenilcetonuria. analisis de mutaciones en el gen de la fenilalanina hidroxilasa. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Belen Perez Gonzalez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1994<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Magdalena Ugarte Perez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Federico Mayor Zaragoza <\/li>\n<li>Mar\u00eda Medina Jose (vocal)<\/li>\n<li>Carlos Alonso Bedate (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Belen Perez Gonzalez Se trata de un trabajo sobre las bases moleculares que causan la fenilcetonuria en [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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