{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:29:34Z","timestamp":1791271774281,"version":"4.1.0"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1994,3,1]],"date-time":"1994-03-01T00:00:00Z","timestamp":762480000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1994,3]]},"DOI":"10.1038\/ng0394-293","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T21:06:51Z","timestamp":1092863211000},"page":"293-298","source":"Crossref","is-referenced-by-count":245,"title":["Mutations in the \u03b32 chain gene (LAMC2) of kalinin\/laminin 5 in the junctional forms of epidermolysis bullosa"],"prefix":"10.1038","volume":"6","author":[{"given":"Leena","family":"Pulkkinen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela M.","family":"Christiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomi","family":"Airenne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heli","family":"Haakana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Tryggvason","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0394293_CR1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4612-2914-8","volume-title":"Epidermolysis bullosa. Basic and clinical aspects","author":"AN Lin","year":"1992","unstructured":"Lin, A.N. & Carter, D.M. (eds) Epidermolysis bullosa. Basic and clinical aspects (Springer-Verlag, New York, 1992)."},{"key":"BFng0394293_CR2","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/0190-9622(91)70021-S","volume":"24","author":"JD Fine","year":"1991","unstructured":"Fine, J.D. et al. 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. J. Am. Acad. Dermatol. 24, 119\u2013135 (1991).","journal-title":"J. Am. Acad. Dermatol."},{"key":"BFng0394293_CR3","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1126\/science.1375393","volume":"256","author":"EH Epstein Jr.","year":"1992","unstructured":"Epstein, E.H., Jr. Molecular genetics of epidermolysis bullosa. Science 256, 799\u2013804 (1992).","journal-title":"Science"},{"key":"BFng0394293_CR4","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1172\/JCI115938","volume":"90","author":"J Uitto","year":"1992","unstructured":"Uitto, J. & Christiano, A.M. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J. clin. Invest. 90, 687\u2013692 (1992).","journal-title":"J. clin. Invest."},{"key":"BFng0394293_CR5","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1126\/science.1720261","volume":"254","author":"JM Bonifas","year":"1991","unstructured":"Bonifas, J.M., Rothman, A.-L. & Epstein, E. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254, 1201\u20131205 (1991).","journal-title":"Science"},{"key":"BFng0394293_CR6","doi-asserted-by":"publisher","first-page":"1301","DOI":"10.1016\/0092-8674(91)90051-Y","volume":"66","author":"PA Coulombe","year":"1991","unstructured":"Coulombe, P.A. et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66, 1301\u20131311 (1991).","journal-title":"Cell"},{"key":"BFng0394293_CR7","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1038\/ng0493-327","volume":"3","author":"A Hovnanian","year":"1993","unstructured":"Hovnanian, A. et al. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Nature Genet. 3, 327\u2013332 (1993).","journal-title":"Nature Genet."},{"key":"BFng0394293_CR8","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1002\/humu.1380020107","volume":"2","author":"MM Humphries","year":"1993","unstructured":"Humphries, M.M. et al. A mutation (Met->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. Hum. Mut. 2, 37\u201342 (1993).","journal-title":"Hum. Mut."},{"key":"BFng0394293_CR9","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1002\/humu.1380020206","volume":"2","author":"W Dong","year":"1993","unstructured":"Dong, W., Ryyn\u00e4nen, M. & Uitto, J. Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized K\u00f6bner type of epidermolysis bullosa simplex. Hum. Mut. 2, 94\u2013102 (1993).","journal-title":"Hum. Mut."},{"key":"BFng0394293_CR10","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1038\/356244a0","volume":"356","author":"EB Lane","year":"1992","unstructured":"Lane, E.B. et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356, 244\u2013246 (1992).","journal-title":"Nature"},{"key":"BFng0394293_CR11","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/0092-8674(92)90607-E","volume":"69","author":"E Fuchs","year":"1992","unstructured":"Fuchs, E. & Coulombe, P.A. Of mice and men: genetic skin diseases of keratin. Cell 69, 899\u2013902 (1992).","journal-title":"Cell"},{"key":"BFng0394293_CR12","first-page":"797","volume":"49","author":"M Ryyn\u00e4nen","year":"1991","unstructured":"Ryyn\u00e4nen, M. et al. Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. Am. J. hum. Genet. 49, 797\u2013803 (1991).","journal-title":"Am. J. hum. Genet."},{"key":"BFng0394293_CR13","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1172\/JCI115680","volume":"89","author":"M Ryyn\u00e4nen","year":"1992","unstructured":"Ryyn\u00e4nen, M. et al. Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. J. clin. Invest. 89, 974\u2013980 (1992).","journal-title":"J. clin. Invest."},{"key":"BFng0394293_CR14","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1136\/jmg.29.6.381","volume":"29","author":"L Al-Imara","year":"1992","unstructured":"Al-Imara, L. et al. Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus. J. med. Genet. 29, 381\u2013382 (1992).","journal-title":"J. med. Genet."},{"key":"BFng0394293_CR15","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1111\/1523-1747.ep12658066","volume":"99","author":"NA Gruis","year":"1992","unstructured":"Gruis, N.A. et al. Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two dutch kindreds. J. invest. Dermatol. 99, 528\u2013530 (1992).","journal-title":"J. invest. Dermatol."},{"key":"BFng0394293_CR16","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1038\/ng0593-62","volume":"4","author":"AM Christiano","year":"1993","unstructured":"Christiano, A.M. et al. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nature Gentet. 4, 62\u201366 (1993).","journal-title":"Nature Gentet."},{"key":"BFng0394293_CR17","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/0005-2736(88)90273-8","volume":"942","author":"P Verrando","year":"1988","unstructured":"Verrando, P., Pisani, A. & Ortonne, J.-P. The new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size weight glycoprotein: modulation of its expression by retinoic acid. Biochim. Biophys. Acta. 942, 45\u201356 (1988).","journal-title":"Biochim. Biophys. Acta."},{"key":"BFng0394293_CR18","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1083\/jcb.114.3.567","volume":"114","author":"P Rousselle","year":"1991","unstructured":"Rousselle, P., Lunstrum, G.P., Keene, D.R. & Burgeson, R.E. Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments. J. Cell Biol. 114, 567\u2013576 (1991).","journal-title":"J. Cell Biol."},{"key":"BFng0394293_CR19","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1016\/0092-8674(91)90092-D","volume":"65","author":"WG Carter","year":"1991","unstructured":"Carter, W.G., Ryan, M.C. & Gahr, P.J. Epiligrin, a new cell adhesion ligand for integrin \u03b13\u03b21 in epithelial basement membranes. Cell 65, 599\u2013610 (1991).","journal-title":"Cell"},{"key":"BFng0394293_CR20","first-page":"295","volume":"69","author":"MP Marinkovich","year":"1993","unstructured":"Marinkovich, M.P. et al. The basement membrane proteins kalinin and nicein are structurally and immunologically identical. Lab. Invest. 69, 295\u2013299 (1993).","journal-title":"Lab. Invest."},{"key":"BFng0394293_CR21","first-page":"85","volume":"64","author":"P Verrando","year":"1991","unstructured":"Verrando, P. et al. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab. Invest. 64, 85\u201391 (1991).","journal-title":"Lab. Invest."},{"key":"BFng0394293_CR22","doi-asserted-by":"crossref","unstructured":"Burgeson, R.E. et al. A new nomenclature for laminins. Matrix Biol. (in the press).","DOI":"10.1016\/0945-053X(94)90184-8"},{"key":"BFng0394293_CR23","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0232-1513(86)80002-0","volume":"29","author":"R Timpl","year":"1986","unstructured":"Timpl, R. & Dziadek, M. Structure, development and molecular pathology of basement membranes. Int. Rev. Exp. Pathol. 29, 1\u2013112 (1986).","journal-title":"Int. Rev. Exp. Pathol."},{"key":"BFng0394293_CR24","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1083\/jcb.119.3.679","volume":"119","author":"P Kallunki","year":"1992","unstructured":"Kallunki, P. et al. A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. J. Cell Biol. 119, 679\u2013693 (1992).","journal-title":"J. Cell Biol."},{"key":"BFng0394293_CR25","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1083\/jcb.119.3.695","volume":"119","author":"MP Marinkovich","year":"1992","unstructured":"Marinkovich, M.P., Lunstrum, G.P., Keene, D.R. & Burgeson, R.E. The dermal-epidermal junction of human skin contains a novel laminin variant. J. Cell Biol. 119, 695\u2013703 (1992).","journal-title":"J. Cell Biol."},{"key":"BFng0394293_CR26","doi-asserted-by":"publisher","first-page":"1557","DOI":"10.1001\/archderm.1993.04540010035004","volume":"219","author":"P Marinkovich","year":"1993","unstructured":"Marinkovich, P. Genetics of basement membrane diseases. Arch. Derm. 219, 1557\u20131565 (1993).","journal-title":"Arch. Derm."},{"key":"BFng0394293_CR27","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1111\/j.1600-0625.1992.tb00080.x","volume":"1","author":"G Meneguzzi","year":"1992","unstructured":"Meneguzzi, G. et al. Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients. Exp. Dermatol. 1, 221\u2013229 (1992).","journal-title":"Exp. Dermatol."},{"key":"BFng0394293_CR28","doi-asserted-by":"publisher","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","volume":"74","author":"F Sanger","year":"1977","unstructured":"Sanger, F., Nicklen, S. & Coulson, A.R. DNA sequencing with chain-terminating inhibitors. Proc. natn. Acad. Sci. U.S.A. 74, 5463\u20135467 (1977).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng0394293_CR29","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1146\/annurev.cb.07.110191.003015","volume":"7","author":"MR Green","year":"1991","unstructured":"Green, M.R. Biochemical mechanisms of constitutive and regulated pre-mRNA splicing. Ann. Rev. Cell Biol. 7, 559\u2013599 (1991).","journal-title":"Ann. Rev. Cell Biol."},{"key":"BFng0394293_CR30","doi-asserted-by":"publisher","first-page":"2868","DOI":"10.1128\/MCB.9.7.2868","volume":"9","author":"G Urlaub","year":"1989","unstructured":"Urlaub, G., Mitchell, P.J., Ciudad, C.J. & Chasin, L.A. Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Molec. Cell. Biol. 9, 2868\u20132880 (1989).","journal-title":"Molec. Cell. Biol."},{"key":"BFng0394293_CR31","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1038\/ng0793-219","volume":"4","author":"I McIntosh","year":"1993","unstructured":"McIntosh, I., Hamosh, A. & Dietz, H.C. Nonsense mutations and diminished mRNA levels. Nature Genet. 4, 219 (1993).","journal-title":"Nature Genet."},{"key":"BFng0394293_CR32","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1126\/science.8430317","volume":"259","author":"HC Dietz","year":"1993","unstructured":"Dietz, H.C. et al. The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259, 680\u2013683 (1993).","journal-title":"Science"},{"key":"BFng0394293_CR33","doi-asserted-by":"publisher","first-page":"1879","DOI":"10.1002\/j.1460-2075.1993.tb05836.x","volume":"12","author":"LI Mayer","year":"1993","unstructured":"Mayer, L.I. et al. A single EGF-like motif of laminin is responsible for high affinity nidogen binding. EMBO J. 12, 1879\u20131885 (1993).","journal-title":"EMBO J."},{"key":"BFng0394293_CR34","doi-asserted-by":"crossref","first-page":"11316","DOI":"10.1016\/S0021-9258(19)49912-2","volume":"267","author":"D Aeschlimann","year":"1992","unstructured":"Aeschlimann, D., Paulsson, M. & Mann, K. Identification of GIn726 in nidogen as the amine acceptor in transglutaminase-catalyzed cross-linking of laminin-nidogen complexes. J. biol. Chem. 267, 11316\u201311321 (1992).","journal-title":"J. biol. Chem."},{"key":"BFng0394293_CR35","doi-asserted-by":"crossref","first-page":"17900","DOI":"10.1016\/S0021-9258(19)37127-3","volume":"267","author":"MP Marinkovich","year":"1992","unstructured":"Marinkovich, M.P., Lunstrum, G.P. & Burgeson, R.E. The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor. J. biol. Chem. 267, 17900\u201317905 (1992).","journal-title":"J. biol. Chem."},{"key":"BFng0394293_CR36","unstructured":"Verrando, P. et al. A new laminin variant defined by the cDNA sequence of the 100 kDa subunit of the basement membrane protein nicein (BM-600)\/ kalinin. Eur. J. Biochem. (in the press)."},{"key":"BFng0394293_CR37","first-page":"772","volume":"60","author":"DR Olsen","year":"1989","unstructured":"Olsen, D.R. et al. Human laminin: cloning and sequence analysis of cDNAs encoding A, B1 and B2 chains, and the expression of corresponding genes in human skin and cultured cells. Lab. Invest. 60, 772\u2013782 (1989).","journal-title":"Lab. Invest."},{"key":"BFng0394293_CR38","first-page":"876","volume":"44","author":"DR Olsen","year":"1989","unstructured":"Olsen, D.R. et al. Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome 1q43. Am. J. hum. Genet. 44, 876\u2013885 (1989).","journal-title":"Am. J. hum. Genet."},{"key":"BFng0394293_CR39","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1111\/1523-1747.ep12277381","volume":"93","author":"DR Olsen","year":"1989","unstructured":"Olsen, D.R. & Uitto, J. Differential expression of type IV procollagen and laminin genes by fetal vs. adult skin fibroblasts in culture: determination of subunit mRNA steady-state levels. J. invest. Dermatol. 93, 127\u2013131 (1989).","journal-title":"J. invest. Dermatol."},{"key":"BFng0394293_CR40","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1111\/1523-1747.ep12371763","volume":"102","author":"YQ Chen","year":"1994","unstructured":"Chen, Y.Q., Mauviel, A., Ryyn\u00e4nen, J., Sollberg, S. & Uitto, J. Type VII collagen gene expression by human skin fibroblasts and keratinocytes in culture. Influence of donor age and cytokine responses. J. invest. Dermatol. 102, 205\u2013209 (1994).","journal-title":"J. invest. Dermatol."},{"key":"BFng0394293_CR41","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1001\/archderm.1993.01680320089011","volume":"129","author":"AM Christiano","year":"1993","unstructured":"Christiano, A.M. & Uitto, J. DNA-based prenatal diagnosis of heritable skin diseases. Arch. Derm. 129, 1455\u20131459 (1993).","journal-title":"Arch. Derm."},{"key":"BFng0394293_CR42","volume-title":"Preimplantation diagnosis of genetic diseases. A new technique in assisted reproduction.","author":"Y Verlinsky","year":"1993","unstructured":"Verlinsky, Y. & Kuliev, A.M. (eds) Preimplantation diagnosis of genetic diseases. A new technique in assisted reproduction. (Wiley-Liss, New York, 1993)."},{"key":"BFng0394293_CR43","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1093\/hmg\/2.2.159","volume":"2","author":"B Richards","year":"1993","unstructured":"Richards, B. et al. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes\/swabs. Hum. molec. Genet. 2, 159\u2013163 (1993).","journal-title":"Hum. molec. Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0394-293","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0394-293.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0394-293.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:25:14Z","timestamp":1684441514000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0394-293"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3]]},"references-count":43,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["BFng0394293"],"URL":"https:\/\/doi.org\/10.1038\/ng0394-293","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3]]}}}