{"id":932,"date":"2016-10-13T19:01:51","date_gmt":"2016-10-13T19:01:51","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=932"},"modified":"2016-10-13T19:01:51","modified_gmt":"2016-10-13T19:01:51","slug":"genotype-phenotype-correlation-and-functional-studies-in-patients-with-cystic-fibrosis-bearing-cftr-complex-alleles","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/10\/13\/genotype-phenotype-correlation-and-functional-studies-in-patients-with-cystic-fibrosis-bearing-cftr-complex-alleles\/","title":{"rendered":"Genotype\u2013phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles"},"content":{"rendered":"<p>It is more and more frequent the detection of CFTR mutations for which it lacks a clear and univocal interpretation. This is particularly true for complex alleles (i.e., more mutations on the same allele). We describe genotype-phenotype correlations in a large number of Cystic Fibrosis patients, carrying different CFTR complex alleles and suggest a poorly invasive tool that may help to predict the clinical severity of the disease. (By Dr. Vito Terlizzi, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/10\/13\/jmedgenet-2016-103985\">http:\/\/jmg.bmj.com\/content\/early\/2016\/10\/13\/jmedgenet-2016-103985<\/a> )<\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/IMG_0262.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-933\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/IMG_0262-300x225.jpg\" alt=\"img_0262\" width=\"300\" height=\"225\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/IMG_0262-300x225.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/IMG_0262-768x576.jpg 768w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/IMG_0262-1024x768.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Dr. Vito Terlizzi<\/p>\n<p><a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/photo-1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-934\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/photo-1-300x225.jpg\" alt=\"photo-1\" width=\"300\" height=\"225\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/photo-1-300x225.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/photo-1-768x576.jpg 768w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/photo-1-1024x768.jpg 1024w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2016\/10\/photo-1.jpg 1417w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Prof Castaldo and his group<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>It is more and more frequent the detection of CFTR mutations for which it lacks a clear and univocal interpretation. This is particularly true for complex alleles (i.e., more mutations on the same allele). We describe genotype-phenotype correlations in a large number of Cystic Fibrosis patients, carrying different CFTR complex alleles and suggest a poorly [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/10\/13\/genotype-phenotype-correlation-and-functional-studies-in-patients-with-cystic-fibrosis-bearing-cftr-complex-alleles\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-932","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/932","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=932"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/932\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=932"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=932"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=932"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}