{"id":914,"date":"2013-03-02T23:48:24","date_gmt":"2013-03-03T03:48:24","guid":{"rendered":"http:\/\/blogviejo.sld.cu\/oserranob\/?p=914"},"modified":"2013-03-02T23:48:24","modified_gmt":"2013-03-03T03:48:24","slug":"secuenciacion-del-exoma-identifica-nueva-enfermedad-genetica","status":"publish","type":"post","link":"https:\/\/blogs.sld.cu\/oserranob\/2013\/03\/02\/secuenciacion-del-exoma-identifica-nueva-enfermedad-genetica\/","title":{"rendered":"Secuenciaci\u00f3n del exoma identifica nueva enfermedad gen\u00e9tica"},"content":{"rendered":"<p>Una mutaci\u00f3n en el gen <strong><a title=\"Informaci\u00f3n sobre el gen en Gene\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/gene\/?term=ASXL3+sapiens\" target=\"_blank\">ASXL3<\/a><\/strong>, identificada por la secuenciaci\u00f3n del exoma de cuatro pacientes pedi\u00e1tricos, es la responsable de un nuevo trastorno gen\u00e9tico que combina s\u00edntomas del <a title=\"Informaci\u00f3n sobre la enfermedad en OMIM\" href=\"http:\/\/omim.org\/entry\/605039?search=Bohring-Opitz&amp;highlight=bohringopitz\" target=\"_blank\"><strong>s\u00edndrome Bohring-Opitz<\/strong><\/a>. Los autores, de <a title=\"Nota de BCM\" href=\"http:\/\/www.bcm.edu\/news\/item.cfm?newsID=6800\" target=\"_blank\">Baylor College of Medicine<\/a>, publican el estudio en <strong><a title=\"Resumen en ingl\u00e9s, con acceso a PDF\" href=\"http:\/\/genomemedicine.com\/content\/5\/2\/11\/abstract\" target=\"_blank\">Bainbridge MN <em>et al<\/em>. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine 2013;5:11<\/a><\/strong>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Una mutaci\u00f3n en el gen ASXL3, identificada por la secuenciaci\u00f3n del exoma de cuatro pacientes pedi\u00e1tricos, es la responsable de un nuevo trastorno gen\u00e9tico que combina s\u00edntomas del s\u00edndrome Bohring-Opitz. Los autores, de Baylor College of Medicine, publican el estudio en Bainbridge MN et al. De novo truncating mutations in ASXL3 are associated with a [&hellip;]<\/p>\n","protected":false},"author":125,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[15],"tags":[],"_links":{"self":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/914"}],"collection":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/users\/125"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/comments?post=914"}],"version-history":[{"count":0,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/914\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/media?parent=914"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/categories?post=914"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/tags?post=914"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}