{"id":1535,"date":"2014-01-22T06:31:11","date_gmt":"2014-01-22T10:31:11","guid":{"rendered":"http:\/\/blogviejo.sld.cu\/oserranob\/?p=1535"},"modified":"2014-01-22T06:31:11","modified_gmt":"2014-01-22T10:31:11","slug":"variabilidad-fenotipica-intrafamiliar-del-sindrome-de-bardet-biedl","status":"publish","type":"post","link":"https:\/\/blogs.sld.cu\/oserranob\/2014\/01\/22\/variabilidad-fenotipica-intrafamiliar-del-sindrome-de-bardet-biedl\/","title":{"rendered":"Variabilidad fenot\u00edpica intrafamiliar del s\u00edndrome de Bardet\u2013Biedl"},"content":{"rendered":"<p><a href=\"https:\/\/blogs.sld.cu\/oserranob\/files\/2014\/01\/bardet-biedl.png\"><img loading=\"lazy\" class=\"alignleft size-full wp-image-1563\" style=\"border: 1px solid black;margin: 5px\" src=\"https:\/\/blogs.sld.cu\/oserranob\/files\/2014\/01\/bardet-biedl.png\" alt=\"\" width=\"79\" height=\"58\" \/><\/a>La detecci\u00f3n de las mutaciones causales y una nueva variante heterocig\u00f3tica en miembros de una familia afectada por <a title=\"Informaci\u00f3n sobre la enfermedad\" href=\"http:\/\/www.omim.org\/entry\/209900\" target=\"_blank\"><strong>s\u00edndrome de Bardet\u2013Biedl<\/strong><\/a> fue posible gracias a una estrategia basada en la secuenciaci\u00f3n del exoma. El art\u00edculo original es <em>Gonz\u00e1lez-del Pozo M, M\u00e9ndez-Vidal C, Santoyo-Lopez J, Vela-Boza A, Bravo-Gil N, Rueda A, et al. <a title=\"Texto completo en ingl\u00e9s\" href=\"http:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.50\/full\" target=\"_blank\"><strong>Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet\u2013Biedl family<\/strong><\/a>. Molecular Genetics &amp; Genomic Medicine 2014;2(1)<\/em>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La detecci\u00f3n de las mutaciones causales y una nueva variante heterocig\u00f3tica en miembros de una familia afectada por s\u00edndrome de Bardet\u2013Biedl fue posible gracias a una estrategia basada en la secuenciaci\u00f3n del exoma. El art\u00edculo original es Gonz\u00e1lez-del Pozo M, M\u00e9ndez-Vidal C, Santoyo-Lopez J, Vela-Boza A, Bravo-Gil N, Rueda A, et al. Deciphering intrafamilial phenotypic [&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\/1535"}],"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=1535"}],"version-history":[{"count":0,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/1535\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/media?parent=1535"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/categories?post=1535"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/tags?post=1535"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}