{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T20:28:33Z","timestamp":1776198513080,"version":"3.50.1"},"reference-count":8,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2015,8,12]],"date-time":"2015-08-12T00:00:00Z","timestamp":1439337600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"},{"start":{"date-parts":[[2015,8,12]],"date-time":"2015-08-12T00:00:00Z","timestamp":1439337600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Dermatol"],"abstract":"<jats:p>Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. &lt;i&gt;TINF2&lt;\/i&gt; encodes a protein in the shelterin complex and &lt;i&gt;TERC&lt;\/i&gt; encodes a component of the telomerase complex. Mutations of both genes have been associated with DKC. This study examined mutations in &lt;i&gt;TINF2&lt;\/i&gt; and &lt;i&gt;TERC&lt;\/i&gt; by direct DNA sequencing in a Thai patient with DKC. We identified a novel mutation (c.845G&gt;T) that is located in exon 6 of &lt;i&gt;TINF2&lt;\/i&gt; and changes an arginine to leucine (Arg282Leu). This identified mutation could be applied for molecular genetic diagnosis and genetic counseling of patients with DKC.<\/jats:p>","DOI":"10.1159\/000439042","type":"journal-article","created":{"date-parts":[[2015,8,11]],"date-time":"2015-08-11T21:01:26Z","timestamp":1439326886000},"page":"212-219","source":"Crossref","is-referenced-by-count":9,"title":["Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita"],"prefix":"10.1159","volume":"7","author":[{"given":"Benjaporn","family":"Panichareon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thanawat","family":"Seedapan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanna","family":"Thongnoppakhun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chanin","family":"Limwongse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manop","family":"Pithukpakorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thawornchai","family":"Limjindaporn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,8,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1532\/IJH97.05067"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2011.1.480"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00149113"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07598.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)09087-6"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.10.004"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-05-153445"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/990141"}],"container-title":["Case Reports in Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/439042","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/439042","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/439042","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:46:19Z","timestamp":1745430379000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000439042"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,12]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2015,8,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000439042","archive":["Portico"],"relation":{},"ISSN":["1662-6567"],"issn-type":[{"value":"1662-6567","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,12]]}}}