{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T11:17:54Z","timestamp":1791890274834,"version":"4.3.4"},"reference-count":50,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1996,8,1]],"date-time":"1996-08-01T00:00:00Z","timestamp":838857600000},"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":[[1996,8]]},"DOI":"10.1038\/ng0896-450","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:19:22Z","timestamp":1092860362000},"page":"450-457","source":"Crossref","is-referenced-by-count":320,"title":["Plectin deficiency results in muscular dystrophy with epidermolysis bullosa"],"prefix":"10.1038","volume":"13","author":[{"given":"F.J.D.","family":"Smith","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.A.J.","family":"Eady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.M.","family":"Leigh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.R.","family":"McMillan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.L.","family":"Rugg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.P.","family":"Kelsell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.P.","family":"Bryant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.K.","family":"Spurr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.F.","family":"Geddes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Kirtschig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Milana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.G.","family":"de Bono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Owaribe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Wiche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Pulkkinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Uitto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.H.I.","family":"McLean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.B.","family":"Lane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0896450_CR1","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/0190-9622(91)70021-S","volume":"24","author":"J-D Fine","year":"1991","unstructured":"Fine, J.-D. et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. J. Am. Acad. Derm. 24, 119\u2013135 (1991).","journal-title":"J. Am. Acad. Derm."},{"key":"BFng0896450_CR2","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1007\/BF00370710","volume":"287","author":"RAJ Eady","year":"1994","unstructured":"Eady, R.A.J. & Dunnill, M.G.S. Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology. Arch. Derm. Res. 287, 2\u20139 (1994).","journal-title":"Arch. Derm. Res."},{"key":"BFng0896450_CR3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1600-0625.1996.tb00086.x","volume":"5","author":"AM Christiano","year":"1996","unstructured":"Christiano, A.M. & Uitto, J. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp. Derm. 5, 1\u201311 (1996).","journal-title":"Exp. Derm."},{"key":"BFng0896450_CR4","doi-asserted-by":"publisher","first-page":"1571","DOI":"10.1001\/archderm.1993.04540010049007","volume":"129","author":"IM Leigh","year":"1993","unstructured":"Leigh, I.M. & Lane, E.B. Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis. Arch. Derm. 129, 1571\u20131577 (1993).","journal-title":"Arch. Derm."},{"key":"BFng0896450_CR5","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1016\/0959-437X(94)90030-2","volume":"4","author":"EB Lane","year":"1994","unstructured":"Lane, E.B. Keratin diseases. Curr. Opin. Genet. Dev. 4, 412\u2013418 (1994).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"BFng0896450_CR6","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1001\/archderm.1988.01670040053022","volume":"124","author":"KM Niemi","year":"1988","unstructured":"Niemi, K.M., Sommer, H., Kero, M., Kanerva, L. & Haltia, M. Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. Arch. Derm. 124, 551\u2013554 (1988).","journal-title":"Arch. Derm."},{"key":"BFng0896450_CR7","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1001\/archderm.1989.01670190065007","volume":"125","author":"J-D Fine","year":"1989","unstructured":"Fine, J.-D. et al. Autosomal recessive epidermolysis bullosa simplex. Arch. Derm. 125, 931\u2013938 (1989).","journal-title":"Arch. Derm."},{"key":"BFng0896450_CR8","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1159\/000116993","volume":"33","author":"C Doriguzzi","year":"1993","unstructured":"Doriguzzi, C. et al. Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa lethalis. Eur. Neurol. 33, 454\u2013460 (1993).","journal-title":"Eur. Neurol."},{"key":"BFng0896450_CR9","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1083\/jcb.97.3.887","volume":"97","author":"G Wiche","year":"1983","unstructured":"Wiche, G., Krepler, R., Artlieb, U., Pytela, R. & Denk, H. Occurrence and immunolocalization of plectin in tissues. J. Cell Biol. 97, 887\u2013901 (1983).","journal-title":"J. Cell Biol."},{"key":"BFng0896450_CR10","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/0014-4827(84)90766-3","volume":"155","author":"G Wiche","year":"1984","unstructured":"Wiche, G., Krepler, R., Artlieb, U., Pytela, R. & Aberer, W. Identification of plectin in different human cell types and immunolocalization at epithelial basal cell surface membranes. Exp. Cell Res. 155, 43\u201349 (1984).","journal-title":"Exp. Cell Res."},{"key":"BFng0896450_CR11","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1016\/S0065-1281(11)80029-2","volume":"96","author":"R Foisner","year":"1994","unstructured":"Foisner, R. et al. A panel of monoclonal antibodies to rat plectin: distinction by epitope mapping and immunoreactivity with different tissues and cell lines. Acta Histochem .(Jena) 96, 421\u2013438 (1994).","journal-title":"Acta Histochem .(Jena)"},{"key":"BFng0896450_CR12","doi-asserted-by":"publisher","first-page":"1497","DOI":"10.1083\/jcb.116.6.1497","volume":"116","author":"Y Hieda","year":"1992","unstructured":"Hieda, Y., Nishizawa, Y., Uematsu, J. & Owaribe, K. Identification of a new hemidesmosomal protein, HD1: a major high molecular mass component of isolated hemidesmosomes. J. Cell Biol. 116, 1497\u20131506 (1992).","journal-title":"J. Cell Biol."},{"key":"BFng0896450_CR13","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1016\/0955-0674(95)80053-0","volume":"7","author":"WHI McLean","year":"1995","unstructured":"McLean, W.H.I. & Lane, E.B. Intermediate filaments in disease. Curr. Opin. Cell Biol. 7, 118\u2013125 (1995).","journal-title":"Curr. Opin. Cell Biol."},{"key":"BFng0896450_CR14","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1002\/bies.950140608","volume":"14","author":"PK Legan","year":"1992","unstructured":"Legan, P.K., Collins, J.E. & Garrod, D.R. The molecular biology of desmosomes and hemidesmosomes: \u2018what's in a name?\u2019. BioEssays 14, 385\u2013392 (1992).","journal-title":"BioEssays"},{"key":"BFng0896450_CR15","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/0014-4827(91)90143-I","volume":"194","author":"MA Kurpakus","year":"1991","unstructured":"Kurpakus, M.A. & Jones, J.C.R. A novel hemidesmosomal plaque component: tissue distribution and incorporation into assembling hemidesmosomes in an in vivo model. Exp. Cell Res. 194, 139\u2013146 (1991).","journal-title":"Exp. Cell Res."},{"key":"BFng0896450_CR16","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1111\/1523-1747.ep12876200","volume":"94","author":"T Tanaka","year":"1990","unstructured":"Tanaka, T. et al. Production of rabbit antibodies against carboxy-terminal epitopes encoded by bullous pemphigoid cDNA. J. Invest. Derm. 94, 617\u2013623 (1990).","journal-title":"J. Invest. Derm."},{"key":"BFng0896450_CR17","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1083\/jcb.114.1.83","volume":"114","author":"G Wiche","year":"1991","unstructured":"Wiche, G. et al. Cloning and sequencing of rat plectin indicates a 466-kD polypeptide chain with a three-domain structure based on a central alpha-helical coiled coil. J. Cell Biol. 114, 83\u201399 (1991).","journal-title":"J. Cell Biol."},{"key":"BFng0896450_CR18","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1111\/j.1469-1809.1995.tb00743.x","volume":"59","author":"DP Kelsell","year":"1995","unstructured":"Kelsell, D.P. et al. Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping. Ann. Hum. Genet. 59, 233\u2013241 (1995).","journal-title":"Ann. Hum. Genet."},{"key":"BFng0896450_CR19","doi-asserted-by":"publisher","first-page":"4278","DOI":"10.1073\/pnas.93.9.4278","volume":"93","author":"C-G Liu","year":"1996","unstructured":"Liu, C.-G., Maercker, C., Casta\u00f1on, M., Hauptmann, R. & Wiche, G. Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24). Proc. Natl. Acad. Sci. USA 93, 4278\u20134283 (1996).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng0896450_CR20","doi-asserted-by":"publisher","first-page":"1823","DOI":"10.1093\/hmg\/2.11.1823","volume":"2","author":"DP Kelsell","year":"1993","unstructured":"Kelsell, D.P., Black, D.M., Bishop, D.T. & Spurr, N.K. Genetic analysis of the BRCA1 region in a large breast\/ovarian cancer family: refinement of the minimal region containing BRCA1. Hum. Mol. Genet. 2, 1823\u20131828 (1993).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0896450_CR21","doi-asserted-by":"publisher","first-page":"11","DOI":"10.3109\/07853899309147851","volume":"25","author":"DN Cooper","year":"1993","unstructured":"Cooper, D.N. Human gene mutation affecting RNA processing and translation. Ann. Med. 25, 11\u201317 (1993).","journal-title":"Ann. Med."},{"key":"BFng0896450_CR22","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1101\/gad.9.4.423","volume":"9","author":"Y Cui","year":"1995","unstructured":"Cui, Y. Hagan, K.W., Zhang, S.A. & Peltz, S.W. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. Genes Dev. 9, 423\u2013436 (1995).","journal-title":"Genes Dev."},{"key":"BFng0896450_CR23","doi-asserted-by":"publisher","first-page":"41","DOI":"10.3109\/10409238909082551","volume":"24","author":"G Wiche","year":"1989","unstructured":"Wiche, G., Plectin: General overview and appraisal of its potential role as a subunit protein of the cytomatrix. CRC Crit. Rev. Biochem. Mol. Biol. 24, 41\u201367 (1989).","journal-title":"CRC Crit. Rev. Biochem. Mol. Biol."},{"key":"BFng0896450_CR24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1042\/bj2590001","volume":"259","author":"G Wiche","year":"1989","unstructured":"Wiche, G. High-Mr microtubule-associated proteins: properties and functions. Biochem. J. 259, 1\u201312 (1989).","journal-title":"Biochem. J."},{"key":"BFng0896450_CR25","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/0955-0674(91)90175-X","volume":"3","author":"JC Jones","year":"1991","unstructured":"Jones, J.C. & Green, K.J. Intermediate filament-plasma membrane interactions. Curr. Opin. Cell Biol. 3, 127\u2013132 (1991).","journal-title":"Curr. Opin. Cell Biol."},{"key":"BFng0896450_CR26","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1006\/jsbi.1995.1055","volume":"115","author":"R Foisner","year":"1995","unstructured":"Foisner, R., Bohn, W., Mannweiler, K. & Wiche, G. Distribution and ultrastructure of plectin arrays in subclones of rat glioma C-6 cells differing in intermediate filament protein (vimentin) expression. J. Struct. Biol. 115, 304\u2013317 (1995).","journal-title":"J. Struct. Biol."},{"key":"BFng0896450_CR27","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1083\/jcb.121.3.607","volume":"121","author":"G Wiche","year":"1993","unstructured":"Wiche, G., Gromov, D., Donovan, A., Castanon, M.J. & Fuchs, E. Expression of plectin mutant cDNA in cultured cells indicates a role of COOH-terminal domain in intermediate filament association. J. Cell Biol. 121, 607\u2013619 (1993).","journal-title":"J. Cell Biol."},{"key":"BFng0896450_CR28","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1111\/1523-1747.ep12491885","volume":"97","author":"A Ishida-Yamamoto","year":"1991","unstructured":"Ishida-Yamamoto, A. et al. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J. Invest. Derm. 97, 959\u2013968 (1991).","journal-title":"J. Invest. Derm."},{"key":"BFng0896450_CR29","doi-asserted-by":"publisher","first-page":"2563","DOI":"10.1101\/gad.8.21.2563","volume":"8","author":"EL Rugg","year":"1994","unstructured":"Rugg, E.L. et al. A functional \u201cknockout\u201d of human keratin 14. Genes Dev. 8, 2563\u20132573 (1994).","journal-title":"Genes Dev."},{"key":"BFng0896450_CR30","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/BF02505050","volume":"288","author":"JR McMillan","year":"1996","unstructured":"McMillan, J.R. & Eady, R.A.J. Ontogeny of hemidesmosomes in human fetal digit skin. Arch. Derm. Res. 288, 91\u201397 (1996).","journal-title":"Arch. Derm. Res."},{"key":"BFng0896450_CR31","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1016\/0092-8674(95)90344-5","volume":"80","author":"KP Campbell","year":"1995","unstructured":"Campbell, K.P. Three muscular dystrophies: loss of cytoskeletal-extracellular matrix linkage. Cell 80, 675\u2013679 (1995).","journal-title":"Cell"},{"key":"BFng0896450_CR32","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/0092-8674(95)90333-X","volume":"81","author":"L Guo","year":"1995","unstructured":"Guo, L. et al. Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell 81, 233\u2013234 (1995).","journal-title":"Cell"},{"key":"BFng0896450_CR33","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1159\/000152573","volume":"23","author":"B Olaisen","year":"1973","unstructured":"Olaisen, B. & Gedde-Dahl Jr, T. GPT-epidermolysis bullosa simplex (EBS Ogna) linkage in man. Hum. Hered. 23, 189\u2013196 (1973).","journal-title":"Hum. Hered."},{"key":"BFng0896450_CR34","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1038\/ng0795-301","volume":"10","author":"A Brown","year":"1995","unstructured":"Brown, A., Bernier, G., Mathieu, M., Rossant, J. & Kothary, R. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nature Genet. 10, 301\u2013306 (1995).","journal-title":"Nature Genet."},{"key":"BFng0896450_CR35","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1111\/j.1600-0560.1995.tb01421.x","volume":"22","author":"SA Vaughan-Jones","year":"1995","unstructured":"Vaughan-Jones, S.A., Palmer, I., Bhogal, B.S., Eady, R.A.J. & Black, M.M. The use of Michel's transport medium for immunfluorescence and immunoelectron microscopy in autoimmune bullous diseases. J. Cut. Path. 22, 365\u2013370 (1995).","journal-title":"J. Cut. Path."},{"key":"BFng0896450_CR36","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1111\/j.1365-2133.1985.tb02400.x","volume":"113","author":"AR Kennedy","year":"1985","unstructured":"Kennedy, A.R. et al. Abnormal binding of an anti-amnion antibody provides a novel diagnostic probe for junctional epidermolysis bullosa. Br. J. Derm. 113, 651\u2013659 (1985).","journal-title":"Br. J. Derm."},{"key":"BFng0896450_CR37","first-page":"84","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 junctional epidermolysis bullosa. Lab. Invest. 64, 84\u201392 (1991).","journal-title":"Lab. Invest."},{"key":"BFng0896450_CR38","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1111\/1523-1747.ep12324108","volume":"105","author":"C Matsui","year":"1995","unstructured":"Matsui, C. et al. \u03b32 chain of laminin 5 is recognized by monoclonal antibody GB3. J. Invest. Derm. 105, 648\u2013652 (1995).","journal-title":"J. Invest. Derm."},{"key":"BFng0896450_CR39","doi-asserted-by":"crossref","first-page":"10376","DOI":"10.1016\/S0021-9258(18)61123-8","volume":"262","author":"A Sonnenberg","year":"1987","unstructured":"Sonnenberg, A., Janssen, H., Hogervorst, F., Calafat, J. & Hilgers, J. A complex of platelet glycoproteins Ic and IIa identified by a rat monoclonal antibody. J. Biol. Chem. 262, 10376\u201310383 (1987).","journal-title":"J. Biol. Chem."},{"key":"BFng0896450_CR40","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1089\/hyb.1990.9.243","volume":"9","author":"SJ Kennel","year":"1990","unstructured":"Kennel, S.J. et al. Second generation monoclonal antibodies to the human integrin alpha 6 and beta 4. Hybridoma 9, 243\u2013255 (1990).","journal-title":"Hybridoma"},{"key":"BFng0896450_CR41","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1001\/archderm.1989.01670160068010","volume":"125","author":"J-D Fine","year":"1989","unstructured":"Fine, J.-D., Horiguchi, Y. & Couchman, J.R. 19-DEJ-1, a hemidesmosome-anchoring filament complex associated monoclonal antibody. Arch. Derm. 125, 520\u2013523 (1989).","journal-title":"Arch. Derm."},{"key":"BFng0896450_CR42","unstructured":"Bancroft, J.D. & Stevens, A. Theory and practice of histological techniques (Churchill Livingstone, London, 1996)."},{"key":"BFng0896450_CR43","doi-asserted-by":"publisher","first-page":"313","DOI":"10.3109\/10520296009114754","volume":"35","author":"KC Richardson","year":"1960","unstructured":"Richardson, K.C., Jarret, L. & Finke, E.H. Embedding in epoxy resins for ultrathin sectioning in electron microscopy. Stain Technol. 35, 313\u2013323 (1960).","journal-title":"Stain Technol."},{"key":"BFng0896450_CR44","volume-title":"Methods in Skin Research","author":"RAJ Eady","year":"1985","unstructured":"Eady, R.A.J. in Methods in Skin Research (eds Skerrow, D. & Skerrow, C. J.) 1-36 (John Wiley& Sons, Chichester, 1985)."},{"key":"BFng0896450_CR45","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1007\/BF00510078","volume":"281","author":"H Shimizu","year":"1989","unstructured":"Shimizu, H., McDonald, J.N., Kennedy, A.R. & Eady, R.A.J. Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for post-embedding immunoelectron microscopy. Arch. Derm. Res. 281, 443\u2013448 (1989).","journal-title":"Arch. Derm. Res."},{"key":"BFng0896450_CR46","doi-asserted-by":"publisher","first-page":"2444","DOI":"10.1073\/pnas.85.8.2444","volume":"85","author":"WR Pearson","year":"1988","unstructured":"Pearson, W.R. & Lipman, J.D. Improved tools for biological sequence comparison. Proc. Natl. Acad. Sci. USA 85, 2444\u20132448 (1988).","journal-title":"Natl. Acad. Sci. USA"},{"key":"BFng0896450_CR47","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1007\/BF02290684","volume":"20","author":"JE Parrish","year":"1994","unstructured":"Parrish, J.E., Wang, Y., Wagner, M.J. & Wells, D.E. Alignment of physical and genetic maps of human 8q23\u2013qter using a somatic cell hybrid mapping panel. Somat. Cell Genet. 20, 143\u2013146 (1994).","journal-title":"Somat. Cell Genet."},{"key":"BFng0896450_CR48","first-page":"252","volume":"53","author":"RW Cottingham","year":"1993","unstructured":"Cottingham, R.W., Idury, R.M. & Schaffer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53, 252\u2013263 (1993).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0896450_CR49","doi-asserted-by":"publisher","first-page":"2289","DOI":"10.1172\/JCI118671","volume":"97","author":"Y Gache","year":"1996","unstructured":"Gache, Y. et al. J. Clin. Invest. 97, 2289\u20132298 (1996).","journal-title":"J. Clin. Invest."},{"key":"BFng0896450_CR50","doi-asserted-by":"crossref","unstructured":"McLean, W.H.I. et al. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev. (in the press).","DOI":"10.1101\/gad.10.14.1724"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0896-450","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0896-450.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0896-450.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:54:08Z","timestamp":1684443248000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0896-450"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,8]]},"references-count":50,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1996,8]]}},"alternative-id":["BFng0896450"],"URL":"https:\/\/doi.org\/10.1038\/ng0896-450","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,8]]}}}