{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T04:06:48Z","timestamp":1768450008583,"version":"3.49.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2001,3,1]],"date-time":"2001-03-01T00:00:00Z","timestamp":983404800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2001,3]]},"DOI":"10.1038\/sj.ejhg.5200608","type":"journal-article","created":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T22:07:40Z","timestamp":1032386860000},"page":"191-196","source":"Crossref","is-referenced-by-count":61,"title":["A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Beh\u00e7et's disease (FMF-BD)"],"prefix":"10.1038","volume":"9","author":[{"given":"Avi","family":"Livneh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivona","family":"Aksentijevich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pnina","family":"Langevitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yelizaveta","family":"Torosyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nitza","family":"G-Shoham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yael","family":"Shinar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elon","family":"Pras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nurit","family":"Zaks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shai","family":"Padeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DanielL","family":"Kastner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mordechai","family":"Pras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2001,4,11]]},"reference":[{"key":"BF5200608_CR1","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1016\/S0092-8674(00)80539-5","volume":"90","author":"Consortium The International FMF","year":"1997","unstructured":"The International FMF Consortium . Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997 90: 797\u2013807.","journal-title":"Cell"},{"key":"BF5200608_CR2","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ng0997-25","volume":"17","author":"Consortium The French FMF","year":"1997","unstructured":"The French FMF Consortium . A candidate gene for familial Mediterranean fever. Nature Genet 1997 17: 25\u201331.","journal-title":"Nature Genet"},{"key":"BF5200608_CR3","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/0002-9343(67)90167-2","volume":"43","author":"E Sohar","year":"1967","unstructured":"Sohar E, Gafni J, Pras M, Heller H . Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967 43: 227\u2013253.","journal-title":"Am J Med"},{"key":"BF5200608_CR4","doi-asserted-by":"publisher","first-page":"612","DOI":"10.1016\/S0049-0172(96)80012-6","volume":"26","author":"A Livneh","year":"1996","unstructured":"Livneh A, Langevitz P, Zemer D et al. The changing face of familial Mediterranean fever. Semin Arthritis Rheum 1996 26: 612\u2013627.","journal-title":"Semin Arthritis Rheum"},{"key":"BF5200608_CR5","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1097\/00005792-199807000-00005","volume":"77","author":"J Samuels","year":"1998","unstructured":"Samuels J, Aksentijevich I, Torosyan Y et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations and a survey of 100 American referrals to the National Institute of Health. Medicine 1998 77: 268\u2013297.","journal-title":"Medicine"},{"key":"BF5200608_CR6","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1097\/00002281-199401000-00007","volume":"6","author":"JD O'Duffy","year":"1994","unstructured":"O'Duffy JD . Beh\u00e7et's disease. Curr Opin Rheumatol 1994 6: 39\u201343.","journal-title":"Curr Opin Rheumatol"},{"key":"BF5200608_CR7","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1111\/j.1399-0039.1978.tb01234.x","volume":"11","author":"C Brautbar","year":"1978","unstructured":"Brautbar C, Chajek T, Ben-Tuvia S, Lamm L, Cohen T . A genetic study of Beh\u00e7et disease in Israel. Tissue Antigens 1978 11: 113\u2013120.","journal-title":"Tissue Antigens"},{"key":"BF5200608_CR8","first-page":"1078","volume":"335","author":"disease International Study Group for Beh\u00e7e","year":"1990","unstructured":"International Study Group for Beh\u00e7et's disease . Criteria for diagnosis of Beh\u00e7et's disease. Lancet 1990 335: 1078\u20131080.","journal-title":"Lancet"},{"key":"BF5200608_CR9","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/0049-0172(79)90004-0","volume":"8","author":"T Shimizu","year":"1979","unstructured":"Shimizu T, Ehrlich GE, Inaba G, Hayashi K . Beh\u00e7et disease (Beh\u00e7et syndrome). Semin Arthritis Rheum 1979 8: 223\u2013260.","journal-title":"Semin Arthritis Rheum"},{"key":"BF5200608_CR10","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1097\/00005792-197505000-00001","volume":"54","author":"T Chajek","year":"1975","unstructured":"Chajek T, Fainaru M . Beh\u00e7et's disease. Report of 41 cases and a review of the literature. Medicine 1975 54: 179\u2013196.","journal-title":"Medicine"},{"key":"BF5200608_CR11","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1016\/S0049-0172(00)80015-3","volume":"29","author":"T Schwartz","year":"2000","unstructured":"Schwartz T, Langevitz P, Zemer D, Gazit E, Pras M, Livneh A . Beh\u00e7et's disease in familial Mediterranean fever: characterization of the association between the two diseases. Semin Arthritis Rheum 2000 29: 286\u2013295.","journal-title":"Semin Arthritis Rheum"},{"key":"BF5200608_CR12","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1086\/302459","volume":"65","author":"C Cazeneuve","year":"1999","unstructured":"Cazeneuve C, Sarkisian T, P\u00eacheux C et al. MEFV-gene analysis in Armenian patients with familial Mediterranean fever: Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype \u2013 genetic and therapeutic implications. Am J Hum Genet 1999 65: 88\u201397.","journal-title":"Am J Hum Genet"},{"key":"BF5200608_CR13","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1086\/302327","volume":"64","author":"I Aksentijevich","year":"1999","unstructured":"Aksentijevich I, Torosyan Y, Samuels J et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999 64: 949\u2013962.","journal-title":"Am J Hum Genet"},{"key":"BF5200608_CR14","doi-asserted-by":"publisher","first-page":"1884","DOI":"10.1002\/art.1780401023","volume":"40","author":"A Livneh","year":"1997","unstructured":"Livneh A, Langevitz P, Zemer D et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997 40: 1884\u20131890.","journal-title":"Arthritis Rheum"},{"key":"BF5200608_CR15","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.1086\/302364","volume":"64","author":"M Ota","year":"1999","unstructured":"Ota M, Mizuki N, Katsuyama Y et al. The critical region for Beh\u00e7et's disease in the human major histocompatibility complex is reduced to a 46-kb segment centromeric of HLA-B, by association analysis using refind microsatellite mapping. Am J Hum Genet 1999 64: 1406\u20131410.","journal-title":"Am J Hum Genet"},{"key":"BF5200608_CR16","unstructured":"Touitou I . The spectrum of FMF mutations. Second International Conference on FMF. Book of Lectures and Abstracts 2000 23\u201326."},{"key":"BF5200608_CR17","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1056\/NEJM199804023381413","volume":"338","author":"AH Holmes","year":"1998","unstructured":"Holmes AH, Booth DR, Hawkins PN . Familial Mediterranean fever gene. N Engl J Med 1998 338: 992\u2013993.","journal-title":"N Engl J Med"},{"key":"BF5200608_CR18","doi-asserted-by":"publisher","first-page":"1415","DOI":"10.1016\/S0140-6736(99)00990-3","volume":"353","author":"M Tunca","year":"1999","unstructured":"Tunca M, Kirkali G, Soyt\u00fcrk M, Akar S, Pepys MB, Hawkins PN . Acute phase response and evolution of familial Mediterranean fever. Lancet 1999 353: 1415.","journal-title":"Lancet"},{"key":"BF5200608_CR19","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1136\/jmg.34.7.573","volume":"34","author":"AN Akarsu","year":"1997","unstructured":"Akarsu AN, Saatci U, Ozen S, Bakkaloglu A, Besbas N, Sarfarazi M . Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. J Med Genet 1997 34: 573\u2013578.","journal-title":"J Med Genet"},{"key":"BF5200608_CR20","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1093\/qjmed\/93.4.217","volume":"93","author":"DR Booth","year":"2000","unstructured":"Booth DR, Gillmore JD, Lachmann HJ et al. The genetic basis of autosomal dominant familial Mediterranean fever. Q J Med 2000 93: 217\u2013221.","journal-title":"Q J Med"},{"key":"BF5200608_CR21","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<30::AID-AJMG6>3.0.CO;2-B","volume":"87","author":"N Tamir","year":"1999","unstructured":"Tamir N, Langevitz P, Zemer D et al. Late onset familial Mediterranean fever (FMF): A subset with distinct clinical, demographic, and molecular genetic characteristics. Am J Med Genet 1999 87: 30\u201335.","journal-title":"Am J Med Genet"},{"key":"BF5200608_CR22","first-page":"539","volume-title":"Ann Intern Med","author":"S Eisenberg","year":"1998","unstructured":"Eisenberg S, Aksentijevitch I, Deng Z, Kastner DL, Matzner Y: . Diagnosis of familial Mediterranean fever by a molecular genetics method. Ann Intern Med 1998 129: 539\u2013542."},{"key":"BF5200608_CR23","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1002\/(SICI)1096-8628(20000605)92:4<247::AID-AJMG4>3.0.CO;2-7","volume":"92","author":"J Press","year":"2000","unstructured":"Press J, Shinar Y, Langevitz P, Livneh A, Pras M, Buskila D . Familial Mediterranean fever in two Bedouin families: Mutation analysis and disease severity. Am J Med Genet 2000 92: 247\u2013249.","journal-title":"Am J Med Genet"},{"key":"BF5200608_CR24","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1038\/sj.ejhg.5200462","volume":"8","author":"C Domingo","year":"2000","unstructured":"Domingo C, Touitou I, Bayou A et al. Familial Mediterranean fever in the \u2018Chuetas\u2019 of Mallorca: a question of Jewish origin or genetic heterogeneity. Eur J Hum Genet 2000 8: 242\u2013246.","journal-title":"Eur J Hum Genet"},{"key":"BF5200608_CR25","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.1093\/hmg\/7.8.1317","volume":"7","author":"A Bernot","year":"1998","unstructured":"Bernot A, da Silva C, Petit J-L et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 1998 7: 1317\u20131325.","journal-title":"Hum Mol Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5200608.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200608","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200608.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:26:04Z","timestamp":1684373164000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5200608"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,3]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2001,3]]}},"alternative-id":["BF5200608"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5200608","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,3]]}}}