{"id":2831,"date":"2022-10-02T08:12:30","date_gmt":"2022-10-02T08:12:30","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2831"},"modified":"2022-10-03T07:45:23","modified_gmt":"2022-10-03T07:45:23","slug":"delecciones-intragenicas-exon-level-deletions","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/delecciones-intragenicas-exon-level-deletions\/","title":{"rendered":"Gross deletions intragenic (exon-level deletions)."},"content":{"rendered":"<div id=\"wp-block-themeisle-blocks-accordion-4f72f87e\" class=\"wp-block-themeisle-blocks-accordion\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Los mecanismos mutacionales no son iguales para todas las enfermedades. Existen algunas enfermedades en las que las delecciones son m\u00e1s frecuentes que las mutaciones puntuales. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"685\" height=\"425\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/image-31.png\" alt=\"\" class=\"wp-image-2832\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-31.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-31-300x186.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-31-18x12.png 18w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><figcaption>https:\/\/www.nature.com\/articles\/gim200934<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Las delecciones intrag\u00e9nicas (delecciones del tama\u00f1o de un <a href=\"https:\/\/en.wikipedia.org\/wiki\/Exon\">ex\u00f3n<\/a>) pueden ser dif\u00edciles de identificar mediante las t\u00e9cnicas de secuenciaci\u00f3n actuales, y tambi\u00e9n pueden pasar desapercibidas mediante la tecnolog\u00eda de aCGH (en funci\u00f3n de la densidad de las sondas).<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/image-33.png\" alt=\"\" class=\"wp-image-2835\" width=\"608\" height=\"629\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-33.png 370w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-33-290x300.png 290w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-33-12x12.png 12w\" sizes=\"(max-width: 608px) 100vw, 608px\" \/><figcaption>https:\/\/www.mrcholland.com\/technology\/mlpa<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Las delecciones intrag\u00e9nicas tienen especial importancia desde el punto de vista terap\u00e9utico, ya que en algunos casos son candidatas a terapia del salto del ex\u00f3n <a href=\"https:\/\/en.wikipedia.org\/wiki\/Exon_skipping\">(exon-skipping)<\/a>.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"301\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/image-32-1024x301.png\" alt=\"\" class=\"wp-image-2833\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-1024x301.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-300x88.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-768x226.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-1536x451.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-2048x602.png 2048w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-18x5.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-1568x461.png 1568w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption>https:\/\/www.mdpi.com\/2075-4426\/8\/4\/41\/htm<\/figcaption><\/figure>\n\n\n\n<p>Para la enfermedad de Duchenne existe una <a href=\"https:\/\/www.parentprojectmd.org\/wp-content\/exondeletiontool\/\">calculadora online<\/a> para saber si una delecci\u00f3n concreta es candidata a terapia del salto del ex\u00f3n. <\/p>\n<\/div><\/details>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":2833,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-2831","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2831","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2831"}],"version-history":[{"count":0,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2831\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2833"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2831"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2831"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2831"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}