{"id":135711,"date":"1997-01-01T00:00:00","date_gmt":"1997-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/diagnostico-genetico-de-la-hipercolesterolemia-familiar-en-espana\/"},"modified":"1997-01-01T00:00:00","modified_gmt":"1997-01-01T00:00:00","slug":"diagnostico-genetico-de-la-hipercolesterolemia-familiar-en-espana","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/diagnostico-genetico-de-la-hipercolesterolemia-familiar-en-espana\/","title":{"rendered":"Diagnostico genetico de la hipercolesterolemia familiar en espa\u00f1a."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Chaves Martinez Felipe Javier <\/strong><\/h2>\n<p>En este trabajo se han realizado los estudios necesarios para facilitar el diagnostico genetico, tanto directo como indirecto, de la hipercolesterolemia familiar, asi se han: &#8211; desarrollado y optimizado diferentes procedimientos para facilitar este diagnostico. &#8211; Se han analizado diferentes polimorfismos presentes en el gen del receptor de ldl (rldl), lo que nos ha permitido facilitar el diagnostico genetico indirecto mediante el analisis de aquellos mas informativos en nuestra poblacion y aplicando procedimientos que facilitan su analisis. &#8211; Se ha analizado el gen rldl para localizar y caracterizar las mutaciones presentes en nuestra poblacion. Este estudio nos ha permitido identificar 5 grandes reordenamientos del gen rldl y 19 peque\u00f1as mutaciones, 18 de todas estas mutaciones no han sido descritas previamente.  &#8211; el diagnostico genetico realizado en las familias estudiadas nos ha permitido identificar en el 30% de ellas individuos adultos portadores de la enfermedad asintomaticos.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Diagnostico genetico de la hipercolesterolemia familiar en espa\u00f1a.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Diagnostico genetico de la hipercolesterolemia familiar en espa\u00f1a. <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Chaves Martinez Felipe Javier <\/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 01\/01\/1997<\/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> Armengod Gonzalez M. Eugenia<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Rafael Carmena Rodriguez <\/li>\n<li>Monserrat Baiges Bastus (vocal)<\/li>\n<li>Jos\u00e9 Hernandez Yago (vocal)<\/li>\n<li>Javier Ben\u00edtez Ortiz (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Chaves Martinez Felipe Javier En este trabajo se han realizado los estudios necesarios para facilitar el diagnostico [&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":[212,35,2820,3153],"tags":[12202,249978,7788,26975,249979,11685],"class_list":["post-135711","post","type-post","status-publish","format-standard","hentry","category-biologia-humana","category-ciencias-de-la-vida","category-genetica-humana","category-histologia-humana","tag-armengod-gonzalez-m-eugenia","tag-chaves-Martinez-felipe-javier","tag-javier-benitez-ortiz","tag-jose-hernandez-yago","tag-monserrat-baiges-bastus","tag-rafael-carmena-rodriguez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/135711","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=135711"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/135711\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=135711"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=135711"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=135711"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}