{"id":1541,"date":"2014-01-22T06:36:40","date_gmt":"2014-01-22T10:36:40","guid":{"rendered":"http:\/\/blogviejo.sld.cu\/oserranob\/?p=1541"},"modified":"2014-01-22T06:36:40","modified_gmt":"2014-01-22T10:36:40","slug":"nueva-enfermedad-mitocondrial-y-el-gen-responsable","status":"publish","type":"post","link":"https:\/\/blogs.sld.cu\/oserranob\/2014\/01\/22\/nueva-enfermedad-mitocondrial-y-el-gen-responsable\/","title":{"rendered":"Nueva enfermedad mitocondrial y el gen responsable"},"content":{"rendered":"<p>Por medio de la secuenciaci\u00f3n del exoma y su an\u00e1lisis bioinform\u00e1tico se ha encontrado que las mutaciones en el gen <a title=\"Informaci\u00f3n sobre el gen\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/gene\/9054\" target=\"_blank\"><strong>NFS1<\/strong><\/a> son responsables de una forma por primera vez reportada de enfermedad mitocondrial caracterizada por acidemia l\u00e1ctica, hipoton\u00eda y fallo multiorg\u00e1nico. El caso es presentado en <em>Farhan SMK, Wang J, Robinson JF, Lahiry P, Siu VM, Prasad C. <a title=\"Texto completo en ingl\u00e9s\" href=\"http:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.46\/full\" target=\"_blank\"><strong>Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II\/III deficiency<\/strong><\/a>. Molecular Genetics &amp; Genomic Medicine 2014;2(1):73\u201380<\/em>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Por medio de la secuenciaci\u00f3n del exoma y su an\u00e1lisis bioinform\u00e1tico se ha encontrado que las mutaciones en el gen NFS1 son responsables de una forma por primera vez reportada de enfermedad mitocondrial caracterizada por acidemia l\u00e1ctica, hipoton\u00eda y fallo multiorg\u00e1nico. El caso es presentado en Farhan SMK, Wang J, Robinson JF, Lahiry P, Siu [&hellip;]<\/p>\n","protected":false},"author":125,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[8,15],"tags":[],"_links":{"self":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/1541"}],"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=1541"}],"version-history":[{"count":0,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/1541\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/media?parent=1541"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/categories?post=1541"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/tags?post=1541"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}