{"id":3536,"date":"2022-11-03T18:20:38","date_gmt":"2022-11-03T18:20:38","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=3536"},"modified":"2024-06-11T06:26:02","modified_gmt":"2024-06-11T06:26:02","slug":"spliceopathies","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/spliceopathies\/","title":{"rendered":"Spliceopathies."},"content":{"rendered":"\n<p>Existen m\u00faltiples enfermedades que directa o indirectamente afectan al splicing, por varios mecanismos. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Mutaciones de un gen que afectan a sus <a href=\"https:\/\/en.wikipedia.org\/wiki\/Splice_site_mutation\">sitios de splicing<\/a>.\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/en.wikipedia.org\/wiki\/Cis-regulatory_element\">Cis- regulatory element<\/a> splicing mutations. \n<ul class=\"wp-block-list\">\n<li>Mutaciones tipo I. Sitio donador can\u00f3nico (GT). Suelen anotarse con -1\/-2\/-3 tras la posici\u00f3n del nucle\u00f3tido que finaliza el ex\u00f3n.<\/li>\n\n\n\n<li>Mutaciones tipo II. Variantes intr\u00f3nicas profundas que producen inclusi\u00f3n ex\u00f3nica cr\u00edptica. <\/li>\n\n\n\n<li>Mutaciones tipo III y V. Variantes ex\u00f3nicas que producen alteraci\u00f3n del splicing (distintas del sitio aceptor y donador can\u00f3nico) por afectaci\u00f3n de enhacers y silencers.   <\/li>\n\n\n\n<li>Mutaciones tipo IV. Sitio aceptor can\u00f3nico (AG). Suelen anotarse con +1\/+2\/+3 tras la posici\u00f3n del nucle\u00f3tido que inicia el ex\u00f3n.<\/li>\n\n\n\n<li>Mutaciones que afectan el \u00abbranch point\u00bb y el tracto de polipirimidina. <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><a href=\"https:\/\/en.wikipedia.org\/wiki\/Trans-regulatory_element\">Trans-regulatory element<\/a> splicing mutations. <\/li>\n\n\n\n<li>Mutaciones din\u00e1micas (STR) que dan lugar a productos t\u00f3xicos que alteran el normal funcionamiento del splicing y la transcripci\u00f3n.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"800\" height=\"256\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-34.png\" alt=\"\" class=\"wp-image-3547\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-34.png 800w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-34-300x96.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-34-768x246.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-34-18x6.png 18w\" sizes=\"(max-width: 800px) 100vw, 800px\" \/><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Mutaciones que afectan a la maquinaria de regulaci\u00f3n del splicing (spliceosoma), dentro de la maquinaria de regulaci\u00f3n de la transcripci\u00f3n.<\/li>\n<\/ul>\n\n\n\n<p>Estrategias para demostrar la patogenicidad. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.umd.be\/HSF3\/\">Human splicing finder. <\/a><\/li>\n\n\n\n<li>An\u00e1lisis in-silico.<\/li>\n\n\n\n<li>An\u00e1lisis funcional. \n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/en.wikipedia.org\/wiki\/Minigene\">Ensayo minigen. <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/es.wikipedia.org\/wiki\/RNA-Seq\">RNA-seq. <\/a><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"1012\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-30-1024x1012.png\" alt=\"\" class=\"wp-image-3537\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-30-1024x1012.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-30-300x296.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-30-768x759.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-30-12x12.png 12w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-30.png 1417w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-embed is-type-rich is-provider-gestor-del-servicio wp-block-embed-gestor-del-servicio wp-embed-aspect-16-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe title=\"Myotonic Dystrophy and Spliceopathy explained\" width=\"640\" height=\"360\" src=\"https:\/\/www.youtube.com\/embed\/FdSyoIDE9es?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>\n<\/div><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"790\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-35-1024x790.png\" alt=\"\" class=\"wp-image-3557\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-35-1024x790.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-35-300x232.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-35-768x593.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-35-16x12.png 16w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-35.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n<div id=\"zotpress-9222d4d3ef73b40e1a49b2ab0f146ccd\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:7RSEKJJB},{332710:HEIEWD9Q}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n        <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n        <span class=\"ZP_POSTID ZP_ATTR\">3536<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\t\t\t\t<span class=\"ZP_JSON ZP_ATTR\">%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%227RSEKJJB%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Anna%20and%20Monika%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BAnna%20A%2C%20Monika%20G.%20Splicing%20mutations%20in%20human%20genetic%20disorders%3A%20examples%2C%20detection%2C%20and%20confirmation.%20J%20Appl%20Genetics%20%5BInternet%5D.%202018%20%5Bcited%202021%20July%2012%5D%3B59%283%29%3A253%26%23x2013%3B68.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs13353-018-0444-7%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs13353-018-0444-7%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Splicing%20mutations%20in%20human%20genetic%20disorders%3A%20examples%2C%20detection%2C%20and%20confirmation%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Abramowicz%22%2C%22lastName%22%3A%22Anna%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Gos%22%2C%22lastName%22%3A%22Monika%22%7D%5D%2C%22abstractNote%22%3A%22Precise%20pre-mRNA%20splicing%2C%20essential%20for%20appropriate%20protein%20translation%2C%20depends%20on%20the%20presence%20of%20consensus%20Bcis%5E%20sequences%20that%20define%20exon-intron%20boundaries%20and%20regulatory%20sequences%20recognized%20by%20splicing%20machinery.%20Point%20mutations%20at%20these%20consensus%20sequences%20can%20cause%20improper%20exon%20and%20intron%20recognition%20and%20may%20result%20in%20the%20formation%20of%20an%20aberrant%20transcript%20of%20the%20mutated%20gene.%20The%20splicing%20mutation%20may%20occur%20in%20both%20introns%20and%20exons%20and%20disrupt%20existing%20splice%20sites%20or%20splicing%20regulatory%20sequences%20%28intronic%20and%20exonic%20splicing%20silencers%20and%20enhancers%29%2C%20create%20new%20ones%2C%20or%20activate%20the%20cryptic%20ones.%20Usually%20such%20mutations%20result%20in%20errors%20during%20the%20splicing%20process%20and%20may%20lead%20to%20improper%20intron%20removal%20and%20thus%20cause%20alterations%20of%20the%20open%20reading%20frame.%20Recent%20research%20has%20underlined%20the%20abundance%20and%20importance%20of%20splicing%20mutations%20in%20the%20etiology%20of%20inherited%20diseases.%20The%20application%20of%20modern%20techniques%20allowed%20to%20identify%20synonymous%20and%20nonsynonymous%20variants%20as%20well%20as%20deep%20intronic%20mutations%20that%20affected%20pre-mRNA%20splicing.%20The%20bioinformatic%20algorithms%20can%20be%20applied%20as%20a%20tool%20to%20assess%20the%20possible%20effect%20of%20the%20identified%20changes.%20However%2C%20it%20should%20be%20underlined%20that%20the%20results%20of%20such%20tests%20are%20only%20predictive%2C%20and%20the%20exact%20effect%20of%20the%20specific%20mutation%20should%20be%20verified%20in%20functional%20studies.%20This%20article%20summarizes%20the%20current%20knowledge%20about%20the%20Bsplicing%20mutations%5E%20and%20methods%20that%20help%20to%20identify%20such%20changes%20in%20clinical%20diagnosis.%22%2C%22date%22%3A%2208%5C%2F2018%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs13353-018-0444-7%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs13353-018-0444-7%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221234-1983%2C%202190-3883%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22B8DDX5EW%22%2C%22DK68YYBL%22%5D%2C%22dateModified%22%3A%222025-09-27T22%3A54%3A41Z%22%7D%7D%2C%7B%22key%22%3A%22HEIEWD9Q%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Daguenet%20et%20al.%22%2C%22parsedDate%22%3A%222015-12%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BDaguenet%20E%2C%20Dujardin%20G%2C%20Valc%26%23xE1%3Brcel%20J.%20The%20pathogenicity%20of%20splicing%20defects%3A%20mechanistic%20insights%20into%20pre-mRNA%20processing%20inform%20novel%20therapeutic%20approaches.%20EMBO%20reports%20%5BInternet%5D.%202015%20Dec%20%5Bcited%202022%20Nov%203%5D%3B16%2812%29%3A1640%26%23x2013%3B55.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.embopress.org%5C%2Fdoi%5C%2Ffull%5C%2F10.15252%5C%2Fembr.201541116%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.embopress.org%5C%2Fdoi%5C%2Ffull%5C%2F10.15252%5C%2Fembr.201541116%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22The%20pathogenicity%20of%20splicing%20defects%3A%20mechanistic%20insights%20into%20pre-mRNA%20processing%20inform%20novel%20therapeutic%20approaches%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Elisabeth%22%2C%22lastName%22%3A%22Daguenet%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Gwendal%22%2C%22lastName%22%3A%22Dujardin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Juan%22%2C%22lastName%22%3A%22Valc%5Cu00e1rcel%22%7D%5D%2C%22abstractNote%22%3A%22Abstract%20Removal%20of%20introns%20from%20pre-mRNA%20precursors%20%28pre-mRNA%20splicing%29%20is%20a%20necessary%20step%20for%20the%20expression%20of%20most%20genes%20in%20multicellular%20organisms%2C%20and%20alternative%20patterns%20of%20intron%20removal%20diversify%20and%20regulate%20the%20output%20of%20genomic%20information.%20Mutation%20or%20natural%20variation%20in%20pre-mRNA%20sequences%2C%20as%20well%20as%20in%20spliceosomal%20components%20and%20regulatory%20factors%2C%20has%20been%20implicated%20in%20the%20etiology%20and%20progression%20of%20numerous%20pathologies.%20These%20range%20from%20monogenic%20to%20multifactorial%20genetic%20diseases%2C%20including%20metabolic%20syndromes%2C%20muscular%20dystrophies%2C%20neurodegenerative%20and%20cardiovascular%20diseases%2C%20and%20cancer.%20Understanding%20the%20molecular%20mechanisms%20associated%20with%20splicing-related%20pathologies%20can%20provide%20key%20insights%20into%20the%20normal%20function%20and%20physiological%20context%20of%20the%20complex%20splicing%20machinery%20and%20establish%20sound%20basis%20for%20novel%20therapeutic%20approaches.%22%2C%22date%22%3A%222015-12%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.15252%5C%2Fembr.201541116%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.embopress.org%5C%2Fdoi%5C%2Ffull%5C%2F10.15252%5C%2Fembr.201541116%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221469-221X%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22AQQ4HSSL%22%5D%2C%22dateModified%22%3A%222025-09-27T20%3A31%3A36Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t<div id=\"zp-ID-3536-332710-7RSEKJJB\" data-zp-author-date='Anna-and-Monika-2018' data-zp-date-author='2018-Anna-and-Monika' data-zp-date='2018' data-zp-year='2018' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Anna A, Monika G. Splicing mutations in human genetic disorders: examples, detection, and confirmation. J Appl Genetics [Internet]. 2018 [cited 2021 July 12];59(3):253\u201368. Available from: <a class='zp-ItemURL' href='http:\/\/link.springer.com\/10.1007\/s13353-018-0444-7'>http:\/\/link.springer.com\/10.1007\/s13353-018-0444-7<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\t\t\t\t<div id=\"zp-ID-3536-332710-HEIEWD9Q\" data-zp-author-date='Daguenet-et-al.-2015-12' data-zp-date-author='2015-12-Daguenet-et-al.' data-zp-date='2015-12' data-zp-year='2015' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Daguenet E, Dujardin G, Valc\u00e1rcel J. The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches. EMBO reports [Internet]. 2015 Dec [cited 2022 Nov 3];16(12):1640\u201355. Available from: <a class='zp-ItemURL' href='https:\/\/www.embopress.org\/doi\/full\/10.15252\/embr.201541116'>https:\/\/www.embopress.org\/doi\/full\/10.15252\/embr.201541116<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n","protected":false},"excerpt":{"rendered":"<p>Existen m\u00faltiples enfermedades que directa o indirectamente afectan al splicing, por varios mecanismos. Estrategias para demostrar la patogenicidad.<\/p>","protected":false},"author":1,"featured_media":3538,"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-3536","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\/3536","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=3536"}],"version-history":[{"count":2,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/3536\/revisions"}],"predecessor-version":[{"id":7405,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/3536\/revisions\/7405"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3538"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3536"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=3536"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=3536"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}