{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:45:47Z","timestamp":1774485947934,"version":"3.50.1"},"reference-count":46,"publisher":"Hindawi Limited","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":8278,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[1993]]},"DOI":"10.1002\/humu.1380020107","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T23:07:04Z","timestamp":1118531224000},"page":"37-42","source":"Crossref","is-referenced-by-count":53,"title":["A mutation (met\u2192arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex"],"prefix":"10.1155","volume":"2","author":[{"given":"Marian M.","family":"Humphries","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise M.","family":"Sheils","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gwyneth J.","family":"Farrar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajendra","family":"Kumar-Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul F.","family":"Kenna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiona C.","family":"Mansergh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siobhan A.","family":"Jordan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjory","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Humphries","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"10.1002\/humu.1380020107-BIB1","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1111\/j.1469-1809.1988.tb01103.x","volume":"52","author":"Attwood","year":"1988","journal-title":"Ann Hum Genet"},{"key":"10.1002\/humu.1380020107-BIB2","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/0005-2795(73)90225-0","volume":"317","author":"Baden","year":"1973","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.1380020107-BIB3","first-page":"300","volume":"47","author":"Bader","year":"1988","journal-title":"Eur J Cell Biol"},{"key":"10.1002\/humu.1380020107-BIB4","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1159\/000132979","volume":"54","author":"Barletta","year":"1990","journal-title":"Cytogenet Cell Genet"},{"key":"10.1002\/humu.1380020107-BIB5","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1126\/science.1720261","volume":"254","author":"Bonifas","year":"1991","journal-title":"Science"},{"key":"10.1002\/humu.1380020107-BIB6","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1016\/S0021-9258(18)71875-9","volume":"252","author":"Brysk","year":"1977","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.1380020107-BIB7","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1016\/0092-8674(91)90051-Y","volume":"66","author":"Coulombe","year":"1991","journal-title":"Cell"},{"key":"10.1002\/humu.1380020107-BIB8","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/0005-2795(77)90118-0","volume":"490","author":"Culbertson","year":"1977","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.1380020107-BIB9","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1136\/jmg.2.4.233","volume":"2","author":"Davidson","year":"1965","journal-title":"J Med Genet"},{"key":"10.1002\/humu.1380020107-BIB10","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1073\/pnas.85.5.1629","volume":"85","author":"Farr","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380020107-BIB11","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/354478a0","volume":"354","author":"Farrar","year":"1992","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380020107-BIB12","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/0190-9622(91)70021-S","volume":"24","author":"Fine","year":"1991","journal-title":"J Am Acad Dermatol"},{"key":"10.1002\/humu.1380020107-BIB13","doi-asserted-by":"crossref","first-page":"5034","DOI":"10.1073\/pnas.75.10.5034","volume":"75","author":"Franke","year":"1978","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380020107-BIB14","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1432-0436.1979.tb01030.x","volume":"15","author":"Franke","year":"1979","journal-title":"Differentiation"},{"key":"10.1002\/humu.1380020107-BIB15","doi-asserted-by":"crossref","first-page":"7113","DOI":"10.1073\/pnas.80.23.7113","volume":"80","author":"Franke","year":"1983","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380020107-BIB16","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/0168-9525(88)90169-2","volume":"4","author":"Fuchs","year":"1988","journal-title":"TIG"},{"key":"10.1002\/humu.1380020107-BIB17","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1016\/0092-8674(78)90273-8","volume":"15","author":"Fuchs","year":"1978","journal-title":"Cell"},{"key":"10.1002\/humu.1380020107-BIB18","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1093\/hmg\/1.1.66-a","volume":"1","author":"Futreal","year":"1992","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380020107-BIB19","volume-title":"Epidermolysis Bullosa: A Clinical, Genetic and Epidcmiological Study. Universitetsforlaget, Oslo","author":"Gedde-Dahl","year":"1971","unstructured":"(1971) Epidermolysis Bullosa: A Clinical, Genetic and Epidcmiological Study. Universitetsforlaget, Oslo. Baltimore: The Johns Hopkins Press."},{"key":"10.1002\/humu.1380020107-BIB20","volume-title":"Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study","author":"Hauge","year":"1971","unstructured":"(1971) Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study. Universitetsforlaget, Oslo, Baltimore: The Johns Hopkins Press."},{"key":"10.1002\/humu.1380020107-BIB21","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1172\/JCI115916","volume":"90","author":"Hovnanian","year":"1992","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.1380020107-BIB22","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/0888-7543(90)90171-P","volume":"7","author":"Humphries","year":"1990","journal-title":"Genomics"},{"key":"10.1002\/humu.1380020107-BIB23","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1093\/hmg\/1.6.453","volume":"1","author":"Humphries","year":"1992","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380020107-BIB24","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/356244a0","volume":"356","author":"Lane","year":"1992","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380020107-BIB25","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","volume":"81","author":"Lathrop","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380020107-BIB26","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1111\/1523-1747.ep12477087","volume":"91","author":"Lessin","year":"1988","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.1380020107-BIB27","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/0092-8674(84)90456-2","volume":"39","author":"Marchuk","year":"1984","journal-title":"Cell"},{"key":"10.1002\/humu.1380020107-BIB28","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1073\/pnas.82.6.1609","volume":"82","author":"Marchuk","year":"1985","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380020107-BIB29","volume-title":"Mendelian Inheritance in Man: Catalogues of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes","author":"McKusick","year":"1983","unstructured":"(1983) Mendelian Inheritance in Man: Catalogues of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes, 6th ed. Baltimore: Johns Hopkins University Press."},{"key":"10.1002\/humu.1380020107-BIB30","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/0092-8674(82)90400-7","volume":"31","author":"Moll","year":"1982","journal-title":"Cell"},{"key":"10.1002\/humu.1380020107-BIB31","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ajmg.1320190320","volume":"19","author":"Mulley","year":"1984","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020107-BIB32","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1083\/jcb.97.1.244","volume":"97","author":"Nelson","year":"1983","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.1380020107-BIB33","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1159\/000152573","volume":"23","author":"Olaisen","year":"1973","journal-title":"Hum Hered"},{"key":"10.1002\/humu.1380020107-BIB34","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","volume":"5","author":"Orita","year":"1989","journal-title":"Genomics"},{"key":"10.1002\/humu.1380020107-BIB35","first-page":"588","volume":"26","author":"Ott","year":"1974","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020107-BIB36","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/BF00284039","volume":"82","author":"Popescu","year":"1989","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380020107-BIB37","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1159\/000132612","volume":"48","author":"Romano","year":"1988","journal-title":"Cytogenet Cell Genet"},{"key":"10.1002\/humu.1380020107-BIB38","doi-asserted-by":"crossref","first-page":"3163","DOI":"10.1093\/nar\/19.11.3163","volume":"19","author":"Rose","year":"1991","journal-title":"Nucl Acids Res"},{"key":"10.1002\/humu.1380020107-BIB39","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1128\/MCB.8.2.722","volume":"8","author":"Rosenberg","year":"1988","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.1380020107-BIB40","first-page":"978","volume":"49","author":"Ryynanen","year":"1991a","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020107-BIB41","first-page":"797","volume":"49","author":"Ryynanen","year":"1991b","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020107-BIB42","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1042\/bj1510603","volume":"151","author":"Steinert","year":"1975","journal-title":"Biochem J"},{"key":"10.1002\/humu.1380020107-BIB43","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1038\/269489a0","volume":"269","author":"Sun","year":"1979","journal-title":"Nature (London)"},{"key":"10.1002\/humu.1380020107-BIB44","doi-asserted-by":"crossref","first-page":"4571","DOI":"10.1093\/nar\/19.16.4571-a","volume":"19","author":"Tsuneyoshi","year":"1991","journal-title":"Nucl Acids Res"},{"key":"10.1002\/humu.1380020107-BIB45","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/0888-7543(90)90540-B","volume":"7","author":"Wasseem","year":"1990","journal-title":"Genomics"},{"key":"10.1002\/humu.1380020107-BIB46","first-page":"388","volume":"44","author":"Weber","year":"1989","journal-title":"Am J Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1380020107","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1380020107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:48:10Z","timestamp":1672332490000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1380020107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993]]},"references-count":46,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1380020107","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993]]}}}