{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T17:26:39Z","timestamp":1698513999538},"reference-count":17,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[1998,12,1]],"date-time":"1998-12-01T00:00:00Z","timestamp":912470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,2]],"date-time":"2015-12-02T00:00:00Z","timestamp":1449014400000},"content-version":"vor","delay-in-days":6210,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[1998,12]]},"DOI":"10.1038\/sj.jid.5600370","type":"journal-article","created":{"date-parts":[[2010,8,23]],"date-time":"2010-08-23T10:21:36Z","timestamp":1282558896000},"page":"1239-1241","source":"Crossref","is-referenced-by-count":8,"title":["Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz Junctional Epidermolysis Bullosa, and their Application for Prenatal Testing"],"prefix":"10.1016","volume":"111","author":[{"given":"Yasuko","family":"Takizawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Pulkkinen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaoru","family":"Suzumori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroaki","family":"Kakinuma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeji","family":"Nishikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/sj.jid.5600370_bb0010","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng0394-299","article-title":"Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene for the \u03b32 subunit (LAMC2) of nicein\/kalinin (laminin 5)","volume":"6","author":"Aberdam","year":"1994","journal-title":"Nature Genet"},{"key":"10.1038\/sj.jid.5600370_bb0015","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/(SICI)1097-0223(199704)17:4<343::AID-PD73>3.0.CO;2-7","article-title":"Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa","volume":"17","author":"Christiano","year":"1997","journal-title":"Prenat Diagn"},{"key":"10.1038\/sj.jid.5600370_bb0020","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/0190-9622(91)70021-S","article-title":"Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry","volume":"24","author":"Fine","year":"1991","journal-title":"J Am Acad Dermatol"},{"key":"10.1038\/sj.jid.5600370_bb0025","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1001\/archderm.1989.01670160068010","article-title":"19-DEJ-1, a hemidesmosome-anchoring filament complex-associated monoclonal antibody: definition of a new skin basement membrane antigenic defect in junctional and dystrophic epidermolysis bullosa","volume":"125","author":"Fine","year":"1989","journal-title":"Arch Dermatoll"},{"key":"10.1038\/sj.jid.5600370_bb0030","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","volume":"90","author":"Ganguly","year":"1993","journal-title":"Proc Natl Acad Sci"},{"key":"10.1038\/sj.jid.5600370_bb0035","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1093\/hmg\/4.5.959","article-title":"A homozygous nonsense mutation in the a3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa","volume":"4","author":"Kivirikko","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1038\/sj.jid.5600370_bb0040","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1093\/hmg\/5.2.231","article-title":"Mutational hotspots 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":"10.1038\/sj.jid.5600370_bb0045","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/ng0394-293","article-title":"Mutations in the \u03b32 chain gene (LAMC2) of kalinin\/laminin 5 in the junctional forms of epidermolysis bullosa","volume":"6","author":"Pulkkinen","year":"1994","journal-title":"Nature Genet"},{"key":"10.1038\/sj.jid.5600370_bb0050","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1006\/geno.1994.1627","article-title":"A homozygous nonsense mutation in the \u00c3\u0178;3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa","volume":"24","author":"Pulkkinen","year":"1994","journal-title":"Genomics"},{"key":"10.1038\/sj.jid.5600370_bb0055","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/0888-7543(95)80125-6","article-title":"Cloning of the \u00c3\u0178;3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa","volume":"25","author":"Pulkkinen","year":"1995","journal-title":"Genomics"},{"key":"10.1038\/sj.jid.5600370_bb0060","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1111\/1523-1747.ep12319752","article-title":"Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy","volume":"109","author":"Pulkkinen","year":"1997","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5600370_bb0065","series-title":"Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry. Baltimore: The Johns Hopkins University Press","article-title":"The molecular basis of the junctional forms of epidermolysis bullosa","author":"Pulkkinen","year":"1999"},{"key":"10.1038\/sj.jid.5600370_bb0070","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1159\/000247085","article-title":"Prenatal diagnosis of epidermolysis bullosa: first successful trial in Asia","volume":"188","author":"Shimizu","year":"1994","journal-title":"Dermatology"},{"key":"10.1038\/sj.jid.5600370_bb0075","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/s004030050175","article-title":"Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa","volume":"289","author":"Shimizu","year":"1997","journal-title":"Arch Dermatol Res"},{"key":"10.1038\/sj.jid.5600370_bb0080","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1046\/j.1523-1747.1998.00186.x","article-title":"Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa","volume":"110","author":"Takizawa","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5600370_bb0085","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1046\/j.1523-1747.1998.00105.x","article-title":"Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing","volume":"110","author":"Takizawa","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5600370_bb0090","first-page":"85","article-title":"Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa","volume":"64","author":"Verrando","year":"1991","journal-title":"Lab Invest"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15403537?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15403537?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,8]],"date-time":"2018-12-08T11:26:04Z","timestamp":1544268364000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15403537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,12]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1998,12]]}},"alternative-id":["S0022202X15403537"],"URL":"https:\/\/doi.org\/10.1038\/sj.jid.5600370","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[1998,12]]}}}