{"id":26834,"date":"2018-03-09T09:18:50","date_gmt":"2018-03-09T09:18:50","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/genetica-y-epidemiologa%c2%ada-de-las-mutaciones-dinamicas-producidas-por-la-expansion-del-trinucleotido-cag\/"},"modified":"2018-03-09T09:18:50","modified_gmt":"2018-03-09T09:18:50","slug":"genetica-y-epidemiologa%c2%ada-de-las-mutaciones-dinamicas-producidas-por-la-expansion-del-trinucleotido-cag","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/genetica-y-epidemiologa%c2%ada-de-las-mutaciones-dinamicas-producidas-por-la-expansion-del-trinucleotido-cag\/","title":{"rendered":"Gen\u00e9tica y epidemiolog\u00eda de las mutaciones din\u00e1micas producidas por la expansi\u00f3n del trinucle\u00f3tido cag"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Javier Garc\u00eda Planells <\/strong><\/h2>\n<p>Las mutaciones din\u00e1micas son un amplio grupo de enfermedades hereditarias humanas. Dentro de este grupo, las enfermedades producidas por la expansi\u00f3n del triplete cag son las m\u00e1s numerosas y suelen tratarse de enfermedades neurodegenerativas, como son el caso de las ataxias espinocerebelosas (sca) y la enfermedad de huntington (hd).  en este trabajo se han estudiado, a trav\u00e9s de una amplia serie de enfermos de sca y hd, diversos factores gen\u00e9ticos y espedimiol\u00f3gicos de este tipo particular de enfermedades. Se han estudiado las mutaciones responsables de ellas y su variabilidad, tanto en la poblaci\u00f3n normal como en las poblaciones de afectados.  se ha procedido al cartografiado gen\u00e9tico de una ataxia espinocerebelosa (sca) presente en una amplia familia, as\u00ed como la descripci\u00f3n de diversos aspectos de la mutaci\u00f3n responsable de esta forma de sca, sca6.  finalmente se ha estudiado la din\u00e1mica poblacional de las mutaicones sca8 y hd en nuestra serie, aport\u00e1ndose distintas hip\u00f3tesis que explicar\u00edan la din\u00e1mica de esas mutaciones en la comunidad Valenciana.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Gen\u00e9tica y epidemiolog\u00eda de las mutaciones din\u00e1micas producidas por la expansi\u00f3n del trinucle\u00f3tido cag<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Gen\u00e9tica y epidemiolog\u00eda de las mutaciones din\u00e1micas producidas por la expansi\u00f3n del trinucle\u00f3tido cag <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Javier Garc\u00eda Planells <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Universitat de val\u00e9ncia (estudi general)<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 14\/11\/2003<\/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>Francesc Palau Mart\u00ednez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Luis Mensua fernandez <\/li>\n<li> Ramos arroyo m. antonia (vocal)<\/li>\n<li>Juan  Jes\u00fas Vilchez padilla (vocal)<\/li>\n<li>victor Volpini bertr\u00e1n (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Javier Garc\u00eda Planells Las mutaciones din\u00e1micas son un amplio grupo de enfermedades hereditarias humanas. Dentro de este [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[1],"tags":[54197,77395,9276,11860,77396,32984],"class_list":["post-26834","post","type-post","status-publish","format-standard","hentry","category-sin-categoria","tag-francesc-palau-Martinez","tag-javier-garcia-planells","tag-jose-luis-mensua-fernandez","tag-juan-jesus-vilchez-padilla","tag-ramos-arroyo-m-antonia","tag-victor-volpini-bertran"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/26834","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=26834"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/26834\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=26834"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=26834"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=26834"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}