{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T10:17:34Z","timestamp":1781086654277,"version":"3.54.1"},"reference-count":32,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[1998,5,1]],"date-time":"1998-05-01T00:00:00Z","timestamp":893980800000},"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":5558,"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":[[1998,5]]},"DOI":"10.1086\/301818","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"1052-1061","source":"Crossref","is-referenced-by-count":64,"title":["Genotype\/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis"],"prefix":"10.1016","volume":"62","author":[{"given":"Hans Christian","family":"Hennies","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"K\u00fcster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Wiebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Krebsov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/301818_bib1","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1083\/jcb.120.6.1461","article-title":"Expression of tissue transglutaminase in skeletal tissues correlates with events of terminal differentiation of chondrocytes","volume":"120","author":"Aeschlimann","year":"1993","journal-title":"J Cell Biol"},{"key":"10.1086\/301818_bib2","series-title":"Diagnostic ultrastructure of non-neoplastic diseases","first-page":"459","article-title":"The skin","author":"Anton-Lamprecht","year":"1992"},{"key":"10.1086\/301818_bib3","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1111\/1523-1747.ep12330566","article-title":"Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases","volume":"107","author":"Bale","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1086\/301818_bib4","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1038\/ng0792-301","article-title":"Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q","volume":"1","author":"Compton","year":"1992","journal-title":"Nat Genet"},{"key":"10.1086\/301818_bib5","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1086\/301818_bib6","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1006\/geno.1994.1170","article-title":"The human tissue transglutaminase gene maps on chromosome 20q12 by in situ fluorescence hybridization","volume":"20","author":"Gentile","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/301818_bib7","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1001\/archderm.1985.01660040073014","article-title":"Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma","volume":"121","author":"Hazell","year":"1985","journal-title":"Arch Dermatol"},{"key":"10.1086\/301818_bib8","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1001\/archderm.1993.01680260088013","article-title":"Analysis of the cornified cell envelope in lamellar ichthyosis","volume":"129","author":"Hohl","year":"1993","journal-title":"Arch Dermatol"},{"key":"10.1086\/301818_bib9","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1126\/science.7824952","article-title":"Mutations of keratinocyte transglutaminase in lamellar ichthyosis","volume":"267","author":"Huber","year":"1995","journal-title":"Science"},{"key":"10.1086\/301818_bib10","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1111\/1523-1747.ep12324122","article-title":"Lamellar ichthyosis is genetically heterogeneous\u2014cases with normal keratinocyte transglutaminase","volume":"105","author":"Huber","year":"1995","journal-title":"J Invest Dermatol"},{"key":"10.1086\/301818_bib11","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1126\/science.270.5244.1945","article-title":"An STS-based map of the human genome","volume":"270","author":"Hudson","year":"1995","journal-title":"Science"},{"key":"10.1086\/301818_bib12","doi-asserted-by":"crossref","first-page":"7710","DOI":"10.1016\/S0021-9258(18)42573-2","article-title":"Structure and organization of the human transglutaminase 1 gene","volume":"267","author":"Kim","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1086\/301818_bib13","doi-asserted-by":"crossref","first-page":"27979","DOI":"10.1016\/S0021-9258(18)46883-4","article-title":"The structure of the transglutaminase 1 enzyme: deletion cloning reveals domains that regulate its specific activity and substrate specificity","volume":"269","author":"Kim","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1086\/301818_bib14","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","article-title":"Strategies for multilocus linkage analysis in humans","volume":"81","author":"Lathrop","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/301818_bib15","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1001\/archderm.131.3.363","article-title":"Absent transglutaminase TGK expression in two of three patients with lamellar ichthyosis","volume":"131","author":"Lavrijsen","year":"1995","journal-title":"Arch Dermatol"},{"key":"10.1086\/301818_bib16","series-title":"Mendelian inheritance in man","author":"McKusick","year":"1994"},{"key":"10.1086\/301818_bib17","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1182\/blood.V87.1.141.141","article-title":"Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit","volume":"87","author":"Mikkola","year":"1996","journal-title":"Blood"},{"key":"10.1086\/301818_bib18","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","article-title":"Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction","volume":"5","author":"Orita","year":"1989","journal-title":"Genomics"},{"key":"10.1086\/301818_bib19","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1093\/hmg\/4.8.1391","article-title":"Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity","volume":"4","author":"Parmentier","year":"1995","journal-title":"Hum Molec Genet"},{"key":"10.1086\/301818_bib20","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1093\/hmg\/5.4.555","article-title":"Mapping of a second locus for lamellar ichthyosis to chromosome 2q33\u201335","volume":"5","author":"Parmentier","year":"1996","journal-title":"Hum Molec Genet"},{"key":"10.1086\/301818_bib21","doi-asserted-by":"crossref","first-page":"2282","DOI":"10.1016\/S0021-9258(18)45875-9","article-title":"Genomic structure of keratinocyte transglutaminase: recruitment of new exon for modified function","volume":"267","author":"Phillips","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1086\/301818_bib22","first-page":"1146","article-title":"Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q","volume":"55","author":"Russell","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301818_bib23","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/ng0395-279","article-title":"Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis","volume":"9","author":"Russell","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/301818_bib24","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1126\/science.274.5287.540","article-title":"A gene map of the human genome","volume":"274","author":"Schuler","year":"1996","journal-title":"Science"},{"key":"10.1086\/301818_bib25","doi-asserted-by":"crossref","first-page":"8019","DOI":"10.1073\/pnas.83.21.8019","article-title":"Primary structure of blood coagulation factor XIIIa (fibrinoligase, transglutaminase) from human placenta","volume":"83","author":"Takahashi","year":"1986","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/301818_bib26","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/0092-8674(85)90217-X","article-title":"Keratinocyte-specific transglutaminase of cultured human epidermal cells: relation to cross-linked envelope formation and terminal differentiation","volume":"40","author":"Thacher","year":"1985","journal-title":"Cell"},{"key":"10.1086\/301818_bib28","series-title":"The ichthyoses: a guide to clinical diagnosis, genetic counseling, and therapy","author":"Traupe","year":"1989"},{"key":"10.1086\/301818_bib27","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/j.1399-0004.1984.tb01089.x","article-title":"Autosomal dominant lamellar ichthyosis: a new skin disorder","volume":"26","author":"Traupe","year":"1984","journal-title":"Clin Genet"},{"key":"10.1086\/301818_bib29","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1006\/geno.1994.1571","article-title":"Assignment of the human transglutaminase 2 (TGM2) and transglutaminase 3 (TGM3) genes to chromosome 20q11.2","volume":"23","author":"Wang","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/301818_bib30","series-title":"Pathogenesis of skin disease","first-page":"519","article-title":"The ichthyoses","author":"Williams","year":"1986"},{"key":"10.1086\/301818_bib31","doi-asserted-by":"crossref","first-page":"17858","DOI":"10.1016\/S0021-9258(19)37122-4","article-title":"Structure of the gene for human transglutaminase 1","volume":"267","author":"Yamanishi","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1086\/301818_bib32","doi-asserted-by":"crossref","first-page":"7296","DOI":"10.1073\/pnas.91.15.7296","article-title":"Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII","volume":"91","author":"Yee","year":"1994","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707615250?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707615250?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T06:19:19Z","timestamp":1621232359000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707615250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,5]]},"references-count":32,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1998,5]]}},"alternative-id":["S0002929707615250"],"URL":"https:\/\/doi.org\/10.1086\/301818","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1998,5]]}}}