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Here, we describe a new p.Leu421Pro (c.1262T&gt;C) mutation in the highly conserved helix termination motif of K16 in a large <jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>panish family. Bioinformatic analyses as well as previous descriptions in the literature of homologous mutations in other keratin\u2010coding genes show that this mutation is probably causative of the disease.<\/jats:p>","DOI":"10.1111\/exd.12262","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T02:42:21Z","timestamp":1381545741000},"page":"838-839","source":"Crossref","is-referenced-by-count":6,"title":["A new <i><scp>KRT<\/scp>16<\/i> mutation associated with a phenotype of pachyonychia congenita"],"prefix":"10.1111","volume":"22","author":[{"given":"Francesc","family":"Paris","sequence":"first","affiliation":[{"name":"Department of Biochemistry &amp; Genetics School of Sciences University of Navarra Pamplona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Hurtado","sequence":"additional","affiliation":[{"name":"Department of Biochemistry &amp; Genetics School of Sciences University of Navarra Pamplona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoni","family":"Az\u00f3n","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital Sant Joan Universitat Rovira i Virgili Reus Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyre","family":"Aguado","sequence":"additional","affiliation":[{"name":"Department of Dermatology Cl\u00ednica Universidad de Navarra Pamplona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 L.","family":"Vizmanos","sequence":"additional","affiliation":[{"name":"Department of Biochemistry &amp; Genetics School of Sciences University of Navarra Pamplona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,27]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.59"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1087-0024.2005.10204.x"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.215"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0395-273"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.10.1875"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1087-0024.2005.10202.x"},{"key":"e_1_2_2_8_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0625.2000.009003170.x"},{"key":"e_1_2_2_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.07.003"},{"key":"e_1_2_2_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.373"},{"key":"e_1_2_2_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.20"},{"key":"e_1_2_2_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20938"},{"key":"e_1_2_2_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12534.x"},{"key":"e_1_2_2_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2000.00928.x"},{"key":"e_1_2_2_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9124"},{"key":"e_1_2_2_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.00061.x"},{"key":"e_1_2_2_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.10096.x"},{"key":"e_1_2_2_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.04.019"},{"key":"e_1_2_2_19_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01565.x"},{"key":"e_1_2_2_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10384-007-0518-2"},{"key":"e_1_2_2_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2012.01534.x"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fexd.12262","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.12262","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T20:40:25Z","timestamp":1695501625000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.12262"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,27]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1111\/exd.12262"],"URL":"https:\/\/doi.org\/10.1111\/exd.12262","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,27]]}}}