{"id":3013,"date":"2016-05-23T14:24:39","date_gmt":"2016-05-23T14:24:39","guid":{"rendered":"http:\/\/blogs.sld.cu\/oserranob\/?p=3013"},"modified":"2016-05-23T15:43:06","modified_gmt":"2016-05-23T15:43:06","slug":"individuos-sanos-que-portan-mutaciones-deletereas","status":"publish","type":"post","link":"https:\/\/blogs.sld.cu\/oserranob\/2016\/05\/23\/individuos-sanos-que-portan-mutaciones-deletereas\/","title":{"rendered":"Individuos sanos portan mutaciones delet\u00e9reas"},"content":{"rendered":"<p style=\"text-align: justify\"><a href=\"https:\/\/blogs.sld.cu\/oserranob\/files\/2016\/05\/2016-05-21-Mendelian.jpg\"><img loading=\"lazy\" class=\"alignleft size-full wp-image-3039\" style=\"border-width: 1px;margin: 5px\" src=\"https:\/\/blogs.sld.cu\/oserranob\/files\/2016\/05\/2016-05-21-Mendelian.jpg\" alt=\"2016 05 21 - Mendelian\" width=\"100\" height=\"82\" \/><\/a>La pesquisa en m\u00e1s de medio mill\u00f3n de genomas identific\u00f3 a 13 sujetos sin manifestaciones cl\u00ednicas que portaban mutaciones relacionadas con ocho trastornos mendelianos severos. En torno a la penetrancia incompleta se discute en Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, <em>et al<\/em>. <a title=\"Texto completo en ingl\u00e9s\" href=\"http:\/\/www.nature.com\/nbt\/journal\/vaop\/ncurrent\/full\/nbt.3514.html\" target=\"_blank\">Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases<\/a>. Nature Biotechnology 2016;34:531\u2013538.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La pesquisa en m\u00e1s de medio mill\u00f3n de genomas identific\u00f3 a 13 sujetos sin manifestaciones cl\u00ednicas que portaban mutaciones relacionadas con ocho trastornos mendelianos severos. En torno a la penetrancia incompleta se discute en Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, et al. Analysis of 589,306 genomes identifies individuals resilient [&hellip;]<\/p>\n","protected":false},"author":125,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[15,21,29],"tags":[],"_links":{"self":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/3013"}],"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=3013"}],"version-history":[{"count":4,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/3013\/revisions"}],"predecessor-version":[{"id":3077,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/3013\/revisions\/3077"}],"wp:attachment":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/media?parent=3013"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/categories?post=3013"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/tags?post=3013"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}