{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:26:47Z","timestamp":1791026807797,"version":"4.1.0"},"reference-count":16,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2012,2,1]],"date-time":"2012-02-01T00:00:00Z","timestamp":1328054400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2012,2]]},"DOI":"10.1016\/j.jdermsci.2011.11.010","type":"journal-article","created":{"date-parts":[[2011,12,14]],"date-time":"2011-12-14T03:53:53Z","timestamp":1323834833000},"page":"149-152","source":"Crossref","is-referenced-by-count":19,"title":["Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa"],"prefix":"10.1016","volume":"65","author":[{"given":"Fernando A.","family":"Rodr\u00edguez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Gana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Joao","family":"Yubero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisela","family":"Zillmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne M.","family":"Kr\u00e4mer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javiera","family":"Catal\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Rubio-Astudillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Ozoemena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jemima M.","family":"Mellerio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"McGrath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"Palisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulette","family":"Conget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdermsci.2011.11.010_bib0005","series-title":"Inherited epidermolysis bullosa: definition and historical overview. In the epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the National Epidermolysis Bullosa Registry","first-page":"1","author":"Fine","year":"1999"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0010","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1172\/JCI115916","article-title":"Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene","volume":"90","author":"Hovnanian","year":"1992","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0015","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0945-053X(98)00007-9","article-title":"Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa","volume":"18","author":"Bruckner-Tuderman","year":"1999","journal-title":"Matrix Biol"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0020","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1111\/j.1600-0625.2008.00723.x","article-title":"Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa","volume":"17","author":"Dang","year":"2008","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0025","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3","article-title":"Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa","volume":"10","author":"Christiano","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0030","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/j.1365-2133.2010.09713.x","article-title":"The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation","volume":"163","author":"Esc\u00e1mez","year":"2010","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0035","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/BF03402203","article-title":"Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)","volume":"2","author":"Christiano","year":"1996","journal-title":"Mol Med"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0040","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.jdermsci.2006.01.005","article-title":"Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau\u2014Siemens recessive dystrophic epidermolysis bullosa","volume":"42","author":"Fassihi","year":"2006","journal-title":"J Dermatol Sci"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0045","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1186\/1471-2350-11-139","article-title":"A prevalent mutation with founder effect in Spanish recessive dystrophic epidermolysis bullosa families","volume":"11","author":"Cuadrado-Corrales","year":"2010","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0050","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1111\/1523-1747.ep12319792","article-title":"Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa","volume":"109","author":"Mellerio","year":"1997","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0055","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1086\/515495","article-title":"Characterization of 18 new mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation","volume":"61","author":"Hovnanian","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0060","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1046\/j.1523-1747.1999.00732.x","article-title":"Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis","volume":"113","author":"Whittock","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0065","first-page":"1483","article-title":"Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene","volume":"78","author":"Cserhalmi-Friedman","year":"1998","journal-title":"Lab Invest"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0070","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1111\/j.1365-2133.2009.09333.x","article-title":"Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort","volume":"161","author":"Kern","year":"2009","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0075","first-page":"671","article-title":"Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance","volume":"58","author":"Christiano","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jdermsci.2011.11.010_bib0080","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1046\/j.1523-1747.1999.00518.x","article-title":"Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in Dystrophic Epidermolysis Bullosa","volume":"112","author":"Mecklenbeck","year":"1999","journal-title":"J Invest Dermatol"}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181111003264?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181111003264?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T01:19:43Z","timestamp":1639963183000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181111003264"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["S0923181111003264"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2011.11.010","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2012,2]]}}}