{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:46:52Z","timestamp":1759333612156},"reference-count":46,"publisher":"Massachusetts Medical Society","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["N Engl J Med"],"published-print":{"date-parts":[[1981,1,22]]},"DOI":"10.1056\/nejm198101223040403","type":"journal-article","created":{"date-parts":[[2010,7,28]],"date-time":"2010-07-28T21:11:29Z","timestamp":1280351489000},"page":"197-204","source":"Crossref","is-referenced-by-count":43,"title":["Deficiency of Galactosylhydroxylysyl Glucosyltransferase, an Enzyme of Collagen Synthesis, in a Family with Dominant Epidermolysis Bullosa Simplex"],"prefix":"10.1056","volume":"304","author":[{"given":"Eeva-Riitta","family":"Savolainen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matti","family":"Kero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taina","family":"Pihlajaniemi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kari I.","family":"Kivirikko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"150","reference":[{"key":"r001","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197907053010104"},{"key":"r002","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1979.tb01926.x"},{"key":"r003","first-page":"225","volume":"98","author":"Minor","year":"1980","journal-title":"Am J Pathol"},{"key":"r004","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197205112861901"},{"key":"r005","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.69.10.2899"},{"key":"r006","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.2106\/00004623-197456060-00015","volume":"56","author":"Sussman","year":"1974","journal-title":"J Bone Joint Surg [Am]"},{"key":"r007","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4109.298"},{"key":"r008","doi-asserted-by":"crossref","first-page":"8887","DOI":"10.1016\/S0021-9258(18)43585-5","volume":"255","author":"Steinmann","year":"1980","journal-title":"J Biol Chem"},{"key":"r009","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198007103030201"},{"key":"r010","doi-asserted-by":"publisher","DOI":"10.1084\/jem.148.5.1378"},{"key":"r011","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/B978-0-12-363708-6.50008-4","volume":"8","author":"Kivirikko","year":"1979","journal-title":"Int Rev Connect Tissue Res"},{"key":"r012","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1979.tb04239.x"},{"key":"r013","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90236-4"},{"key":"r014","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.1979.tb01673.x"},{"key":"r015","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90051-2"},{"key":"r016","unstructured":"Gedde-Dahl T Jr. Epidermolysis bullosa: a clinical, genetic and epidemiological study. Baltimore: Johns Hopkins University Press, 1971."},{"key":"r017","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90050-0"},{"key":"r018","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1979.tb13114.x"},{"key":"r019","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1975.tb04008.x"},{"key":"r020","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90122-X"},{"key":"r021","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1975.tb21016.x"},{"key":"r022","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1975.tb02289.x"},{"key":"r023","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.1977.tb01608.x"},{"key":"r024","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1042\/bj1580361","volume":"158","author":"Risteli","year":"1976","journal-title":"Biochem J"},{"key":"r025","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(73)90256-0"},{"key":"r026","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(67)90160-1"},{"key":"r027","unstructured":"Oser BL, ed. Hawk's physiological chemistry. 14th ed. New York: Blakiston, 1965:1233\u20136."},{"key":"r028","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1976.tb09997.x"},{"key":"r029","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(75)90222-3"},{"key":"r030","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108704"},{"key":"r031","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106367"},{"key":"r032","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/B978-0-12-363705-5.50008-7","volume":"5","author":"Kivirikko","year":"1970","journal-title":"Int Rev Connect Tissue Res"},{"key":"r033","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.1976.tb00529.x"},{"key":"r034","doi-asserted-by":"crossref","first-page":"9682","DOI":"10.1016\/S0021-9258(19)83570-6","volume":"254","author":"Hamazaki","year":"1979","journal-title":"J Biol Chem"},{"key":"r035","doi-asserted-by":"crossref","first-page":"10329","DOI":"10.1016\/S0021-9258(19)86713-3","volume":"254","author":"Sternberg","year":"1979","journal-title":"J Biol Chem"},{"key":"r036","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1976.03910040323006"},{"key":"r037","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273196"},{"key":"r038","first-page":"201","volume":"40","author":"Vogel","year":"1979","journal-title":"Lab Invest"},{"key":"r039","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(63)90617-2"},{"key":"r040","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197206152862401"},{"issue":"17","key":"r041","first-page":"133","volume":"8","author":"Mustajoki","year":"1976","journal-title":"Ann Clin Res"},{"key":"r042","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198010023031402"},{"key":"r043","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109454"},{"key":"r044","doi-asserted-by":"publisher","DOI":"10.1038\/jid.1962.156"},{"key":"r045","doi-asserted-by":"publisher","DOI":"10.1038\/277229a0"},{"key":"r046","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.80.1.197"}],"container-title":["New England Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nejm.org\/doi\/pdf\/10.1056\/NEJM198101223040403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T02:28:30Z","timestamp":1635820110000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.nejm.org\/doi\/abs\/10.1056\/NEJM198101223040403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,1,22]]},"references-count":46,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1981,1,22]]}},"alternative-id":["10.1056\/NEJM198101223040403"],"URL":"https:\/\/doi.org\/10.1056\/nejm198101223040403","relation":{},"ISSN":["0028-4793","1533-4406"],"issn-type":[{"value":"0028-4793","type":"print"},{"value":"1533-4406","type":"electronic"}],"subject":[],"published":{"date-parts":[[1981,1,22]]}}}