{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:57:50Z","timestamp":1791536270505,"version":"4.3.4"},"reference-count":34,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[1997,6,1]],"date-time":"1997-06-01T00:00:00Z","timestamp":865123200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5892,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1997,6]]},"DOI":"10.1086\/515463","type":"journal-article","created":{"date-parts":[[2007,12,4]],"date-time":"2007-12-04T19:37:45Z","timestamp":1196797065000},"page":"1344-1353","source":"Crossref","is-referenced-by-count":71,"title":["Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa"],"prefix":"10.1016","volume":"60","author":[{"given":"Hauke","family":"Schumann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadja","family":"Hammami-Hauasli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Pulkkinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Mauviel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"K\u00fcster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula","family":"L\u00fcthi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsushi","family":"Owaribe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Bruckner-Tuderman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/515463_bib1","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/1523-1747.ep12329728","article-title":"Cicatricial pemphigoid autoantibodies react with multiple sites on the BP180 extracellular domain","volume":"106","author":"Balding","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1086\/515463_bib2","series-title":"Extracellular matrix and its heritable disorders of connective tissue","first-page":"507","article-title":"Epidermolysis bullosa","author":"Bruckner-Tuderman","year":"1993"},{"key":"10.1086\/515463_bib3","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1083\/jcb.131.2.551","article-title":"Immunohistochemical and mutation analysis demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain","volume":"131","author":"Bruckner-Tuderman","year":"1995","journal-title":"J Cell Biol"},{"key":"10.1086\/515463_bib4","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1006\/geno.1994.1238","article-title":"Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa","volume":"21","author":"Christiano","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/515463_bib5","first-page":"156","article-title":"Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chlo-rophorm extraction","volume":"162","author":"Chromczynski","year":"1987","journal-title":"Anal Biochem"},{"key":"10.1086\/515463_bib6","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1111\/1523-1747.ep12289718","article-title":"Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2 (BPAG2) gene in five Austrian families with generalized atrophic benign epidermolysis bullosa","volume":"108","author":"Darling","year":"1997","journal-title":"J Invest Dermatol"},{"key":"10.1086\/515463_bib7","doi-asserted-by":"crossref","first-page":"10325","DOI":"10.1073\/pnas.90.21.10325","article-title":"Conformation-sensitive gel electrophoresis for rapid detection of single base differences in double stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA hetero-duplexes","volume":"90","author":"Ganguly","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/515463_bib8","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","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/515463_bib9","first-page":"1225","article-title":"Epidermolysis bullosa","volume":"Vol. 1","author":"Gedde-Dahl","year":"1996"},{"key":"10.1086\/515463_bib10","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1111\/1523-1747.ep12616580","article-title":"Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180","volume":"99","author":"Giudice","year":"1992","journal-title":"J Invest Dermatol"},{"key":"10.1086\/515463_bib11","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1111\/1523-1747.ep12382738","article-title":"Development of an ELISA to detect anti-BP180 autoantibodies in bullous pemphigoid and herpes gestationes","volume":"102","author":"Giudice","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.1086\/515463_bib12","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1159\/000251166","article-title":"Epidermolysis bullosa hereditaria with junctional blistering in an adult","volume":"152","author":"Hashimoto","year":"1976","journal-title":"Dermatologica"},{"key":"10.1086\/515463_bib13","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1111\/1523-1747.ep12525447","article-title":"Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in mech-anobullous diseases","volume":"76","author":"Hintner","year":"1981","journal-title":"J Invest Dermatol"},{"key":"10.1086\/515463_bib14","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1001\/archderm.1982.01650180009008","article-title":"Generalized atrophic benign epi-dermolysis bullosa","volume":"118","author":"Hintner","year":"1982","journal-title":"Arch Dermatol"},{"key":"10.1086\/515463_bib15","doi-asserted-by":"crossref","first-page":"13739","DOI":"10.1074\/jbc.271.23.13739","article-title":"Demonstration of the molecular shape of BP180, a 180 kDa bullous pemphigoid antigen and its potential for trimer formation","volume":"271","author":"Hirako","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1086\/515463_bib16","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1083\/jcb.130.1.117","article-title":"Molecular genetic studies of a human epidermal autoantigen (the 180 kD bullous pemphigoid antigen\/BP180): identification of functionally important sequences within the BP180 molecule and evidence for an interaction between BP180 and \u03b16 integrin","volume":"130","author":"Hopkinson","year":"1995","journal-title":"J Cell Biol"},{"key":"10.1086\/515463_bib17","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1172\/JCI116368","volume":"91","author":"Ishiko","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1086\/515463_bib18","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1172\/JCI117785","article-title":"180 kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa","volume":"95","author":"Jonkman","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1086\/515463_bib19","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1001\/archderm.1996.03890260047007","article-title":"Generalized atrophic benign epidermolysis bullosa: either 180 kD bullous pemphigoid antigen or laminin 5 deficiency","volume":"132","author":"Jonkman","year":"1996","journal-title":"Arch Dermatol"},{"key":"10.1086\/515463_bib20","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/0014-4827(92)90034-6","article-title":"Phorbolester and calcium induced reorganization of 180 kDa bullous pemphigoid antigen on the ventral surface of cultured human keratinocytes as studied by immunofluorescence and immunoelectron microscopy","volume":"203","author":"Kitajima","year":"1992","journal-title":"Exp Cell Res"},{"key":"10.1086\/515463_bib21","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1093\/hmg\/5.2.231","article-title":"Mutational hot spots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa","volume":"5","author":"Kivirikko","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/515463_bib22","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1083\/jcb.117.3.679","article-title":"Transforming growth factor beta stimulates collagen VII expression by cutaneous cells in vitro","volume":"117","author":"K\u00f6nig","year":"1992","journal-title":"J Cell Biol"},{"key":"10.1086\/515463_bib23","doi-asserted-by":"crossref","first-page":"8825","DOI":"10.1016\/S0021-9258(18)52948-3","article-title":"Cloning of type XVII collagen","volume":"12","author":"Li","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1086\/515463_bib24","doi-asserted-by":"crossref","first-page":"2480","DOI":"10.1172\/JCI116856","article-title":"A passive transfer model of the organ specific autoimmune disease, bullous pemphigoid, using antibodies generated against the hemidesmosomal antigen, BP180","volume":"92","author":"Liu","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1086\/515463_bib25","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1111\/1523-1747.ep12345821","article-title":"A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa","volume":"106","author":"McGrath","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1086\/515463_bib26","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng0995-83","article-title":"Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1) in generalized atrophic benign epidermolysis bullosa","volume":"11","author":"McGrath","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/515463_bib27","first-page":"1787","article-title":"Compound hetero-zygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition","volume":"148","author":"McGrath","year":"1996","journal-title":"Am J Pathol"},{"key":"10.1086\/515463_bib28","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1093\/oxfordjournals.jbchem.a124072","article-title":"HD4, a 180kD bullous pemphiogid antigen is a major transmembrane gly-coprotein of the hemidesmosomes","volume":"113","author":"Nishizawa","year":"1993","journal-title":"J Biochem (Tokyo)"},{"key":"10.1086\/515463_bib29","first-page":"829","article-title":"Predominance of a hotspot mutation, R635X, in the LAMB3 gene in patients with junctional epidermolysis bullosa","volume":"106","author":"Pulkkinen","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1086\/515463_bib30","doi-asserted-by":"crossref","first-page":"1174","DOI":"10.1172\/JCI118901","article-title":"Cross-linking of the dermo-epidermal junction of skin regenerating from kera-tinocyte autografts","volume":"98","author":"Raghunath","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1086\/515463_bib31","series-title":"Molecular cloning: a laboratory manual","author":"Sambrook","year":"1990"},{"key":"10.1086\/515463_bib32","first-page":"821","article-title":"Protein chemical characterization of BP180\/collagen XVII from human keratinocytes","volume":"106","author":"Schumann","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1086\/515463_bib33","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/0014-4827(91)90428-W","article-title":"Isolation of \u03b16\u03b21 integrins from platelets and adherent cells by affinity chromatography on mouse laminin fragment E8 and human laminin pepsin fragment","volume":"197","author":"Sonnenberg","year":"1991","journal-title":"Exp Cell Res"},{"key":"10.1086\/515463_bib34","first-page":"176","article-title":"Epidermolysis bullosa atrophicans ge-neralisata mitis","volume":"36","author":"Zortea-Caflish","year":"1985","journal-title":"Hautarzt"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707642268?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707642268?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,8,29]],"date-time":"2021-08-29T21:36:00Z","timestamp":1630272960000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707642268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,6]]},"references-count":34,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1997,6]]}},"alternative-id":["S0002929707642268"],"URL":"https:\/\/doi.org\/10.1086\/515463","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1997,6]]}}}