{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T12:28:30Z","timestamp":1781353710545,"version":"3.54.1"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2017,6,7]],"date-time":"2017-06-07T00:00:00Z","timestamp":1496793600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2017,6,7]],"date-time":"2017-06-07T00:00:00Z","timestamp":1496793600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Premier Specialists R&D"},{"DOI":"10.13039\/501100005107","name":"Australasian Blistering Diseases Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005107","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Caroline Quinn Trust"},{"DOI":"10.13039\/100008081","name":"Dystrophic Epidermolysis Bullosa Research Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008081","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001773","name":"University of New South Wales","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001773","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br J Dermatol"],"published-print":{"date-parts":[[2017,7]]},"DOI":"10.1111\/bjd.15053","type":"journal-article","created":{"date-parts":[[2016,9,9]],"date-time":"2016-09-09T20:02:12Z","timestamp":1473451332000},"page":"262-264","source":"Crossref","is-referenced-by-count":13,"title":["Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in <i>KRT5<\/i>\n and <i>KRT14<\/i>"],"prefix":"10.1093","volume":"177","author":[{"given":"E.","family":"Kim","sequence":"first","affiliation":[{"name":"Faculty of Medicine; Department of Medicine; University of South Wales; Sydney NSW 2050 Australia"},{"name":"Department of Dermatology; St George Hospital; Sydney NSW 2217 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Harris","sequence":"additional","affiliation":[{"name":"Faculty of Medicine; Department of Medicine; University of South Wales; Sydney NSW 2050 Australia"},{"name":"Department of Dermatology; St George Hospital; Sydney NSW 2217 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Hyland","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory; Department of Pathology; Royal Brisbane and Women's Hospital; Herston Qld 4006 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.F.","family":"Murrell","sequence":"additional","affiliation":[{"name":"Faculty of Medicine; Department of Medicine; University of South Wales; Sydney NSW 2050 Australia"},{"name":"Department of Dermatology; St George Hospital; Sydney NSW 2217 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,6,7]]},"reference":[{"key":"10.1111\/bjd.15053-BIB0001|bjd15053-cit-0001","first-page":"637","article-title":"Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients","volume":"164","author":"Bolling","year":"2011","journal-title":"Br J Dermatol"},{"key":"10.1111\/bjd.15053-BIB0002|bjd15053-cit-0002","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.det.2009.10.003","article-title":"Epidermolysis bullosa simplex","volume":"28","author":"Sprecher","year":"2010","journal-title":"Dermatol Clin"},{"key":"10.1111\/bjd.15053-BIB0003|bjd15053-cit-0003","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1750-1172-5-12","article-title":"Inherited epidermolysis bullosa","volume":"5","author":"Fine","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1111\/bjd.15053-BIB0004|bjd15053-cit-0004","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1046\/j.0022-202x.2001.01508.x","article-title":"Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes","volume":"117","author":"Cummins","year":"2001","journal-title":"J Invest Dermatol"},{"key":"10.1111\/bjd.15053-BIB0005|bjd15053-cit-0005","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1126\/science.279.5350.514","article-title":"A structural scaffolding of intermediate filaments in health and disease","volume":"279","author":"Fuchs","year":"1998","journal-title":"Science"},{"key":"10.1111\/bjd.15053-BIB0006|bjd15053-cit-0006","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1111\/bjd.12624","article-title":"Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex","volume":"170","author":"Wertheim-Tysarowska","year":"2014","journal-title":"Br J Dermatol"},{"key":"10.1111\/bjd.15053-BIB0007|bjd15053-cit-0007","doi-asserted-by":"crossref","first-page":"2852","DOI":"10.1038\/jid.2012.229","article-title":"Digenic inheritance in epidermolysis bullosa simplex","volume":"132","author":"Padalon-Brauch","year":"2012","journal-title":"J Invest Dermatol"},{"key":"10.1111\/bjd.15053-BIB0008|bjd15053-cit-0008","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1111\/bjd.15053-BIB0009|bjd15053-cit-0009","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"10.1111\/bjd.15053-BIB0010|bjd15053-cit-0010","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"10.1111\/bjd.15053-BIB0011|bjd15053-cit-0011","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1111\/bjd.15053-BIB0012|bjd15053-cit-0012","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1046\/j.1523-1747.1998.00374.x","article-title":"Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex","volume":"111","author":"Muller","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1111\/bjd.15053-BIB0013|bjd15053-cit-0013","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/j.1365-2133.2006.07285.x","article-title":"Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases","volume":"155","author":"Yasukawa","year":"2006","journal-title":"Br J Dermatol"},{"key":"10.1111\/bjd.15053-BIB0014|bjd15053-cit-0014","doi-asserted-by":"crossref","first-page":"1787","DOI":"10.1038\/jid.2011.206","article-title":"The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex","volume":"131","author":"Murrell","year":"2011","journal-title":"J Invest Dermatol"},{"key":"10.1111\/bjd.15053-BIB0015|bjd15053-cit-0015","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1111\/j.1600-0625.2012.01534.x","article-title":"Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise","volume":"21","author":"Chamcheu","year":"2012","journal-title":"Exp Dermatol"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjd.15053","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjd.15053","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/bjd.15053\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T14:23:36Z","timestamp":1676384616000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/177\/1\/262\/6601910"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,7]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,7]]}},"URL":"https:\/\/doi.org\/10.1111\/bjd.15053","archive":["Portico"],"relation":{},"ISSN":["0007-0963"],"issn-type":[{"value":"0007-0963","type":"print"}],"subject":[],"published":{"date-parts":[[2017,6,7]]}}}