{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T04:39:29Z","timestamp":1772253569964,"version":"3.50.1"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2001,11,1]],"date-time":"2001-11-01T00:00:00Z","timestamp":1004572800000},"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":[[2001,11]]},"DOI":"10.1038\/sj.ejhg.5200723","type":"journal-article","created":{"date-parts":[[2008,5,19]],"date-time":"2008-05-19T16:23:53Z","timestamp":1211214233000},"page":"843-848","source":"Crossref","is-referenced-by-count":35,"title":["Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal"],"prefix":"10.1038","volume":"9","author":[{"given":"Carla S","family":"Cardoso","sequence":"first","affiliation":[]},{"given":"Pedro","family":"Oliveira","sequence":"additional","affiliation":[]},{"given":"Gra\u00e7a","family":"Porto","sequence":"additional","affiliation":[]},{"given":"Christian","family":"Oberkanins","sequence":"additional","affiliation":[]},{"given":"M\u00f3nica","family":"Mascarenhas","sequence":"additional","affiliation":[]},{"given":"Pedro","family":"Rodrigues","sequence":"additional","affiliation":[]},{"given":"Fritz","family":"Kury","sequence":"additional","affiliation":[]},{"given":"Maria","family":"de Sousa","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2001,12,11]]},"reference":[{"key":"BF5200723_CR1","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1056\/NEJM197907263010402","volume":"301","author":"GE Cartwright","year":"1979","unstructured":"Cartwright GE, Edwards CQ, Kravitz K et al. Hereditary hemochromatosis. Phenotypic expression of the disease N Engl J Med 1979 301: 175\u2013179","journal-title":"N Engl J Med"},{"key":"BF5200723_CR2","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1111\/j.1600-0609.1989.tb01200.x","volume":"42","author":"TM Cox","year":"1989","unstructured":"Cox TM, Lord DK . Hereditary Hemochromatosis Eur J Haematol 1989 42: 113\u2013125","journal-title":"Eur J Haematol"},{"key":"BF5200723_CR3","doi-asserted-by":"publisher","first-page":"1355","DOI":"10.1056\/NEJM198805263182103","volume":"318","author":"CQ Edwards","year":"1988","unstructured":"Edwards CQ, Griffen LM, Goldgar DE, Drummond C, Skolnick MH, Kushner JP . Prevalence of hemochromatosis among 11,065 presumably healthy blood donors N Engl J Med 1988 318: 1355\u20131362","journal-title":"N Engl J Med"},{"key":"BF5200723_CR4","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1038\/ng0896-399","volume":"13","author":"J Feder","year":"1996","unstructured":"Feder J, Gnirke A, Thomas W et al. A novel MHC class I like gene is mutated in patients with hereditary haemochromatosis Nature Genet 1996 13: 399\u2013408","journal-title":"Nature Genet"},{"key":"BF5200723_CR5","doi-asserted-by":"publisher","first-page":"14025","DOI":"10.1074\/jbc.272.22.14025","volume":"272","author":"JN Feder","year":"1997","unstructured":"Feder JN, Tsuchihashi Z, Irrinki A et al. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression J Biol Chem 1997 272: 14025\u201314028","journal-title":"J Biol Chem"},{"key":"BF5200723_CR6","doi-asserted-by":"publisher","first-page":"12384","DOI":"10.1073\/pnas.94.23.12384","volume":"94","author":"A Waheed","year":"1997","unstructured":"Waheed A, Parkkila S, Zhou XY et al. Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells Proc Natl Acad Sci USA 1997 94: 12384\u201312389","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5200723_CR7","doi-asserted-by":"crossref","unstructured":"Porto G, De Sousa M . Variation of hemochromatosis prevalence and genotype in national groups in Barton JC, Edwards CQ (eds): Hemochromatosis: Genetics, pathophysiology, diagnosis and treatment Cambridge 2000 pp 51\u201362","DOI":"10.1017\/CBO9780511666476.006"},{"key":"BF5200723_CR8","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1006\/bcmd.1998.0211","volume":"24","author":"E Ryan","year":"1998","unstructured":"Ryan E, O'Keane C, Crowe J . Hemochromatosis in Ireland and HFE Blood Cells Mol Dis 1998 24: 428\u2013432","journal-title":"Blood Cells Mol Dis"},{"key":"BF5200723_CR9","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1111\/j.1399-0039.1998.tb03076.x","volume":"52","author":"S Murphy","year":"19998","unstructured":"Murphy S, Curran MD, McDougall N, Callender ME, O'Brien CJ, Middleton D . High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population-implications for haemochromatosis Tissue Antigens 1 998 52: 484\u2013488","journal-title":"Tissue Antigens 1"},{"key":"BF5200723_CR10","first-page":"828","volume":"60","author":"M Carella","year":"1997","unstructured":"Carella M, D'Ambrosio L, Totaro A et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients Am J Hum Genet 1997 60: 828\u2013832","journal-title":"Am J Hum Genet"},{"key":"BF5200723_CR11","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1016\/S0168-8278(98)80252-3","volume":"29","author":"M Sanchez","year":"1998","unstructured":"Sanchez M, Bruguera M, Bosch J, Rodes J, Ballesta F, Oliva R . Prevalence of Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls J Hepatol 1998 29: 725\u2013728","journal-title":"J Hepatol"},{"key":"BF5200723_CR12","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1007\/s002510050376","volume":"47","author":"G Porto","year":"1998","unstructured":"Porto G, Alves H, Rodrigues P et al. Major Histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis Immunogenetics 1998 47: 404\u2013410","journal-title":"Immunogenetics"},{"key":"BF5200723_CR13","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1136\/jmg.34.4.275","volume":"34","author":"AT Merryweather-Clarke","year":"1997","unstructured":"Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJH . Global prevalence of putative haemochromatosis mutations J Med Genet 1997 34: 275\u2013278","journal-title":"J Med Genet"},{"key":"BF5200723_CR14","doi-asserted-by":"publisher","first-page":"1403","DOI":"10.1086\/301878","volume":"62","author":"LM Cullen","year":"1998","unstructured":"Cullen LM, Gao X, Easteal S, Jazwinska EC . The hemochromatosis 845 G-A mutations: prevalence in non-Caucasian populations Am J Hum Genet 1998 62: 1403\u20131407","journal-title":"Am J Hum Genet"},{"key":"BF5200723_CR15","first-page":"295","volume":"119","author":"G Porto","year":"1992","unstructured":"Porto G, Vicente C, Fraga J, Martins da Silva B, De Sousa M . Importance to establishing appropriate local reference values for the screening of hemochromatosis: A study of three different control populations and 136 hemochromatosis family members J Lab Clin Med 1992 119: 295\u2013305","journal-title":"J Lab Clin Med"},{"key":"BF5200723_CR16","doi-asserted-by":"publisher","first-page":"A225","DOI":"10.1046\/j.1469-1809.1997.6130225.x","volume":"61","author":"C Oberkanins","year":"1997","unstructured":"Oberkanins C, Kazemi-Shirazi L, Kury F et al. Genotyping of the hereditary haemochromatosis mutation (HLA-H:C282Y) in microtiter plates Am J Hum Genet 1997 61: Suppl A225","journal-title":"Am J Hum Genet"},{"key":"BF5200723_CR17","first-page":"62","volume":"6","author":"C Oberkanins","year":"1998","unstructured":"Oberkanins C, Kazemi-Shirazi L, Kury F et al. Genotyping of common hereditary haemochromatosis mutations in microtiter plates Eur J Hum Genet 1998 6: Suppl.1 62","journal-title":"Eur J Hum Genet"},{"key":"BF5200723_CR18","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1016\/S0168-8278(99)80022-1","volume":"30","author":"C Oberkanins","year":"1999","unstructured":"Oberkanins C, Kazemi-Shirazi L, Kury F et al. Genotyping of hereditary haemochromatosis mutations in microtiter plates J Hepatol 1999 30: Suppl.1 162","journal-title":"J Hepatol"},{"key":"BF5200723_CR19","unstructured":"Zar JH . Biostatistical Analysis, 4th edn Prentice Hall, New Jersey 1999"},{"key":"BF5200723_CR20","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1006\/bcmd.1998.0212","volume":"24","author":"G Lucotte","year":"1998","unstructured":"Lucotte G . Celtic origin of the C282Y mutation of hemochromatosis Blood Cells Mol Dis 1998 24: 433\u2013438","journal-title":"Blood Cells Mol Dis"},{"key":"BF5200723_CR21","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1089\/10906570050114902","volume":"4","author":"AT Merryweather-Clarke","year":"2000","unstructured":"Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, Rochette J, Robson KJ . Geography of HFE C282Y and H63D mutations Genet Test 2000 4: 183\u2013198","journal-title":"Genet Test"},{"key":"BF5200723_CR22","doi-asserted-by":"crossref","unstructured":"Fairbanks VF . Hemochromatosis: population genetics in Barton JC, Edwards CQ (eds): Hemochromatosis: Genetics, pathophysiology, diagnosis and treatment Cambridge 2000 pp 42\u201350","DOI":"10.1017\/CBO9780511666476.005"},{"key":"BF5200723_CR23","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1089\/10906570050114894","volume":"4","author":"G Restagno","year":"2000","unstructured":"Restagno G, Gomez AM, Sbaiz L et al. A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology Genet Test 2000 4: 177\u2013181","journal-title":"Genet Test"},{"key":"BF5200723_CR24","doi-asserted-by":"publisher","first-page":"1439","DOI":"10.1086\/515466","volume":"60","author":"RS Ajioka","year":"1997","unstructured":"Ajioka RS, Jorde LB, Gruen JR et al. Haplotype analysis of hemochromatosis: evaluation of different linkage disequilibrium approaches and evolution of disease chromosomes Am J Hum Genet 1997 60: 1439\u20131447","journal-title":"Am J Hum Genet"},{"key":"BF5200723_CR25","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1007\/s004390050734","volume":"102","author":"W Thomas","year":"1998","unstructured":"Thomas W, Fullan A, Loeb DB, McClelland EE, Bacon BR, Wolff RK . A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region Hum Genet 1998 102: 517\u2013525","journal-title":"Hum Genet"},{"key":"BF5200723_CR26","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1038\/ng1297-375","volume":"17","author":"N Risch","year":"1997","unstructured":"Risch N . Haemochromatosis, HFE and genetic complexity Nat Genet 1997 17: 375\u2013376","journal-title":"Nat Genet"},{"key":"BF5200723_CR27","doi-asserted-by":"publisher","first-page":"99","DOI":"10.2307\/3172109","volume":"27","author":"J Horta","year":"2000","unstructured":"Horta J . Evidence for a Luso-African identity in \u201cPortuguese accounts a Guinee of Cabo Verde\u201d (sixteenth and seventeenth centuries) History in Africa 2000 27: 99\u2013130","journal-title":"History in Africa"},{"key":"BF5200723_CR28","unstructured":"Ribeiro O, Lautensach H, Daveau S . Geografia de Portugal III. O povo Portugu\u00eas: Edi\u00e7\u00f5es S\u00e1 Costa, Lisboa, Portugal 1989"},{"key":"BF5200723_CR29","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1098\/rspb.1999.0678","volume":"266","author":"T Cymbron","year":"1999","unstructured":"Cymbron T, Loftus R, Malheiro MI, Bradley DG . Mitochondrial sequence variation suggest an African influence in Portuguese cattle Proc R Soc Lond B 1999 266: 597\u2013603","journal-title":"Proc R Soc Lond B"},{"key":"BF5200723_CR30","first-page":"89","volume":"41","author":"M Simon","year":"1987","unstructured":"Simon M, Le Mignon L, Fauchet R et al. A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) Mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) Hypothesis concerning the underlying cause of hemochromatosis-HLA association Am J Hum Genet 1987 41: 89\u2013105","journal-title":"Am J Hum Genet"},{"key":"BF5200723_CR31","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1111\/j.1399-0004.1988.tb03450.x","volume":"33","author":"N Milman","year":"1988","unstructured":"Milman N, Graudal N, Nielsen LS, Fenger K . HLA determinants in 70 Danish patients with idiopathic haemochromatosis Clin Genet 1988 33: 286\u2013292","journal-title":"Clin Genet"},{"key":"BF5200723_CR32","first-page":"166","volume":"8","author":"J Lavinha","year":"2000","unstructured":"Lavinha J, Alves C, Amorim A et al. Genetic diversity of the Portuguese population: the existing geographic and cultural boundary is not reflected in population subdivision Eur J Hum Genet 2000 8: 166 Poster 682","journal-title":"Eur J Hum Genet"},{"key":"BF5200723_CR33","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1086\/302318","volume":"64","author":"J Rochette","year":"1999","unstructured":"Rochette J, Pointon JJ, Fisher C et al. Multicentric origin of hemochromatosis gene (HFE) mutations Am J Hum Genet 1999 64: 1056\u20131562","journal-title":"Am J Hum Genet"},{"key":"BF5200723_CR34","doi-asserted-by":"crossref","first-page":"2429","DOI":"10.1093\/clinchem\/44.12.2429","volume":"44","author":"C Datz","year":"1988","unstructured":"Datz C, Haas T, Rinner H, Sandhofer F, Patsch W, Paulweber B . Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency? Clin Chem 1988 44: 2429\u20132432","journal-title":"Clin Chem"},{"key":"BF5200723_CR35","doi-asserted-by":"publisher","first-page":"13198","DOI":"10.1073\/pnas.94.24.13198","volume":"94","author":"S Parkkila","year":"1997","unstructured":"Parkkila S, Waheed A, Britton RS et al. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis Proc Natl Acad Sci USA 1997 94: 13198\u201313202","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5200723_CR36","doi-asserted-by":"crossref","unstructured":"De Sousa M, Porto G, Fraga J et al. Ann NY Acad Sci 1988 526: 349\u2013351","DOI":"10.1111\/j.1749-6632.1988.tb55524.x"},{"key":"BF5200723_CR37","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1017\/S0031182000084729","volume":"112","author":"J Goma","year":"1996","unstructured":"Goma J, Renia L, Miltgen F, Mazier D . Iron overload increases hepatic development of Plasmodium yoelii in mice Parasitology 1996 112: 165\u2013168","journal-title":"Parasitology"},{"key":"BF5200723_CR38","unstructured":"Filipe AR . O Instituto de Malariologia de \u00c1guas de Moura e a luta contra a Mal\u00e1ria em Portugal (1996); in Minist\u00e9rio da Sa\u00fade - Centro de Estudos de Vectores e Doen\u00e7as infecciosas do Instituto Nacional de Sa\u00fade (eds): Trabalhos publicados III (1996-1998 \u00c1guas de Moura, Portugal 1999 pp 41\u201350"},{"key":"BF5200723_CR39","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1006\/bcmd.1998.0183","volume":"24","author":"G Mercier","year":"1998","unstructured":"Mercier G, Bathelier C, Lucotte G . Frequency of the C282Y mutation of hemochromatosis in five French populations Blood Cells Mol Dis 1998 24: 165\u2013166","journal-title":"Blood Cells Mol Dis"},{"key":"BF5200723_CR40","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1006\/bcmd.1999.0263","volume":"25","author":"O Racchi","year":"1999","unstructured":"Racchi O, Mangerini R, Rapezzi et al. Mutations of the HFE gene and the risk of hepatocellular carcinoma Blood Cells Mol Dis 1999 25: 350\u2013353","journal-title":"Blood Cells Mol Dis"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5200723.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200723","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200723.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:27:21Z","timestamp":1684373241000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5200723"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,11]]},"references-count":40,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2001,11]]}},"alternative-id":["BF5200723"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5200723","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,11]]}}}