{"id":2259,"date":"2015-03-31T15:29:54","date_gmt":"2015-03-31T15:29:54","guid":{"rendered":"http:\/\/blogs.sld.cu\/oserranob\/?p=2259"},"modified":"2015-03-31T23:49:12","modified_gmt":"2015-03-31T23:49:12","slug":"variantes-raras-en-ela","status":"publish","type":"post","link":"https:\/\/blogs.sld.cu\/oserranob\/2015\/03\/31\/variantes-raras-en-ela\/","title":{"rendered":"Variantes raras en ELA"},"content":{"rendered":"<p style=\"text-align: justify\"><a href=\"https:\/\/blogs.sld.cu\/oserranob\/files\/2015\/03\/ALS1.jpg\"><img loading=\"lazy\" class=\"alignleft  wp-image-2327\" style=\"border: 1px solid black;margin: 5px\" src=\"https:\/\/blogs.sld.cu\/oserranob\/files\/2015\/03\/ALS1.jpg\" alt=\"\" width=\"112\" height=\"74\" \/><\/a>Algunos casos espor\u00e1dicos de <a title=\"Informaci\u00f3n sobre la enfermedad\" href=\"http:\/\/omim.org\/entry\/105400\" target=\"_blank\">esclerosis lateral amiotr\u00f3fica<\/a> pueden explicarse por la presencia de variantes recesivas y mutaciones <em>de novo<\/em>, encontradas en el 27 % de una muestra de enfermos y sus padres a los que se secuenci\u00f3 el exoma. Tales hallazgos aparecen en Steinberg KM, Yu B, Koboldt DC, Mardis ER, Pamphlett R. <a title=\"Texto completo en ingl\u00e9s\" href=\"http:\/\/www.nature.com\/srep\/2015\/150316\/srep09124\/full\/srep09124.html\" target=\"_blank\">Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS<\/a>. Scientific Reports 2015;5:9124; doi:10.1038\/srep09124.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Algunos casos espor\u00e1dicos de esclerosis lateral amiotr\u00f3fica pueden explicarse por la presencia de variantes recesivas y mutaciones de novo, encontradas en el 27 % de una muestra de enfermos y sus padres a los que se secuenci\u00f3 el exoma. Tales hallazgos aparecen en Steinberg KM, Yu B, Koboldt DC, Mardis ER, Pamphlett R. Exome sequencing [&hellip;]<\/p>\n","protected":false},"author":125,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[15,25,26,29],"tags":[],"_links":{"self":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/2259"}],"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=2259"}],"version-history":[{"count":4,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/2259\/revisions"}],"predecessor-version":[{"id":2331,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/2259\/revisions\/2331"}],"wp:attachment":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/media?parent=2259"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/categories?post=2259"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/tags?post=2259"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}