{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:32:19Z","timestamp":1760729539509},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,2,9]],"date-time":"2004-02-09T00:00:00Z","timestamp":1076284800000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2004,2]]},"abstract":"<jats:p><jats:bold>Abstract:<\/jats:bold> Mutations in the gene <jats:italic>COL17A1<\/jats:italic> cause non\u2010Herlitz junctional epidermolysis bullosa. Here, we describe a patient who, despite two heterozygous mutations in <jats:italic>COL17A1<\/jats:italic>, has an extremely mild form of the disease missing most of the characteristic clinical features. DNA analysis revealed a frame\u2010shift mutation 3432delT and a nonsense mutation 2356C\u2192T (Q751X). cDNA analysis showed that the deleterious effect of the latter mutation was skirted by deleting the premature termination codon containing exon 30. In this way, the reading frame was restored, resulting in a 36 nucleotides shorter mRNA transcript. Immunoblot analysis showed expression of the 180\u2010kDa bullous pemphigoid antigen (BP180) with a slightly higher SDS\u2010PAGE mobility, in line with the deletion of 12 amino acids from the COL15 domain. Immunofluorescence of skin sections showed diminished, but correctly localised expression of BP180, and this, in concert with the mild clinical phenotype, suggests that this COL15 mutated BP180 is still partly functional.<\/jats:p>","DOI":"10.1111\/j.0906-6705.2004.00141.x","type":"journal-article","created":{"date-parts":[[2004,2,9]],"date-time":"2004-02-09T08:49:01Z","timestamp":1076316541000},"page":"125-128","source":"Crossref","is-referenced-by-count":19,"title":["A very mild form of non\u2010Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain"],"prefix":"10.1111","volume":"13","author":[{"given":"A. M. G.","family":"Pasmooij","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Van Zalen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. M.","family":"Nijenhuis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. J.","family":"Kloosterhuis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Zuiderveen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. F.","family":"Jonkman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. H.","family":"Pas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,2,9]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.11.1.277"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12616580"},{"key":"e_1_2_4_4_2","first-page":"352","article-title":"Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa","volume":"60","author":"Gatalica B","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2000.00578.x"},{"key":"e_1_2_4_6_2","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1001\/archderm.1996.03890260047007","article-title":"Generalized atrophic benign epidermolysis bullosa. Either 180\u2010kd bullous pemphigoid antigen or laminin\u20105 deficiency","volume":"132","author":"Jonkman M F","year":"1996","journal-title":"Arch Dermatol"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(87)90647-4"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8430317"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1383-5742(98)00010-6"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/301768"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2001.00229.x"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12276614"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.9.15.8529832"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117785"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81894-2"},{"key":"e_1_2_4_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3780297"},{"key":"e_1_2_4_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_4_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(91)90084-8"},{"key":"e_1_2_4_19_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.136.6.1333"},{"key":"e_1_2_4_20_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.16.9711"},{"key":"e_1_2_4_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12289703"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.0906-6705.2004.00141.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.0906-6705.2004.00141.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T20:23:23Z","timestamp":1696969403000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.0906-6705.2004.00141.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["10.1111\/j.0906-6705.2004.00141.x"],"URL":"https:\/\/doi.org\/10.1111\/j.0906-6705.2004.00141.x","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2]]}}}