{"id":2831,"date":"2022-10-02T08:12:30","date_gmt":"2022-10-02T08:12:30","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2831"},"modified":"2026-06-22T16:28:10","modified_gmt":"2026-06-22T16:28:10","slug":"delecciones-intragenicas-exon-level-deletions","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/ja\/delecciones-intragenicas-exon-level-deletions\/","title":{"rendered":"\u907a\u4f1d\u5b50\u5185\u306e\u6b20\u5931\uff08\u30a8\u30af\u30bd\u30f3\u30ec\u30d9\u30eb\u306e\u6b20\u5931\uff09\u3002"},"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>\u7a81\u7136\u5909\u7570\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u3059\u3079\u3066\u306e\u75c5\u6c17\u3067\u540c\u3058\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u70b9\u7a81\u7136\u5909\u7570\u3088\u308a\u3082\u6b20\u5931\u306e\u983b\u5ea6\u304c\u9ad8\u3044\u75c5\u6c17\u304c\u3044\u304f\u3064\u304b\u3042\u308a\u307e\u3059\u3002 <\/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=\"https:\/\/neuropediatoolkit.org\/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>\u907a\u4f1d\u5b50\u5185\u6b20\u5931 (\u907a\u4f1d\u5b50\u30b5\u30a4\u30ba\u306e\u6b20\u5931) <a href=\"https:\/\/en.wikipedia.org\/wiki\/Exon\">\u30a8\u30af\u30bd\u30f3<\/a>\uff09\u73fe\u5728\u306e\u914d\u5217\u6c7a\u5b9a\u6280\u8853\u3092\u4f7f\u7528\u3057\u3066\u7279\u5b9a\u3059\u308b\u306e\u306f\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u3001aCGH \u6280\u8853\u3092\u4f7f\u7528\u3057\u3066\u3082\u691c\u51fa\u3055\u308c\u306a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff08\u30d7\u30ed\u30fc\u30d6\u5bc6\u5ea6\u306b\u5fdc\u3058\u3066\uff09\u3002<\/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=\"https:\/\/neuropediatoolkit.org\/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>\u907a\u4f1d\u5b50\u5185\u306e\u6b20\u5931\u306f\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u30a8\u30af\u30bd\u30f3\u30b9\u30ad\u30c3\u30d4\u30f3\u30b0\u7642\u6cd5\u306e\u5019\u88dc\u3068\u306a\u308b\u305f\u3081\u3001\u6cbb\u7642\u306e\u89b3\u70b9\u304b\u3089\u7279\u306b\u91cd\u8981\u3067\u3059\u3002 <a href=\"https:\/\/en.wikipedia.org\/wiki\/Exon_skipping\">(\u30a8\u30af\u30bd\u30f3\u30b9\u30ad\u30c3\u30d4\u30f3\u30b0)<\/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=\"https:\/\/neuropediatoolkit.org\/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>\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u75c5\u306e\u5834\u5408\u306f\u3001 <a href=\"https:\/\/www.parentprojectmd.org\/wp-content\/exondeletiontool\/\">\u30aa\u30f3\u30e9\u30a4\u30f3\u8a08\u7b97\u6a5f<\/a> \u7279\u5b9a\u306e\u6b20\u5931\u304c\u30a8\u30af\u30bd\u30f3\u30b9\u30ad\u30c3\u30d4\u30f3\u30b0\u7642\u6cd5\u306e\u5019\u88dc\u3067\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u77e5\u308b\u305f\u3081\u3002 <\/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\/ja\/wp-json\/wp\/v2\/posts\/2831","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/comments?post=2831"}],"version-history":[{"count":1,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/2831\/revisions"}],"predecessor-version":[{"id":8207,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/2831\/revisions\/8207"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media\/2833"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media?parent=2831"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/categories?post=2831"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/tags?post=2831"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}