{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:35:17Z","timestamp":1759336517559,"version":"3.40.3"},"publisher-location":"Berlin, Heidelberg","reference-count":26,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"type":"print","value":"9783662536803"},{"type":"electronic","value":"9783662536810"}],"license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016]]},"DOI":"10.1007\/8904_2016_534","type":"book-chapter","created":{"date-parts":[[2016,3,8]],"date-time":"2016-03-08T23:06:59Z","timestamp":1457478419000},"page":"45-52","source":"Crossref","is-referenced-by-count":0,"title":["A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria"],"prefix":"10.1007","author":[{"given":"Berardino","family":"Porfirio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Sestini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greta","family":"Gorelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Cordovana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Mannoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanette L.","family":"Usher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy J.","family":"Introne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Vilboux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,3,10]]},"reference":[{"key":"534_CR1","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1086\/301805","volume":"62","author":"D Beltr\u00e1n-Valero de Bernab\u00e9","year":"1998","unstructured":"Beltr\u00e1n-Valero de Bernab\u00e9 D, Granadino B, Chiarelli I et al (1998) Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet 62:776\u2013784","journal-title":"Am J Hum Genet"},{"key":"534_CR2","doi-asserted-by":"publisher","first-page":"1316","DOI":"10.1086\/302376","volume":"64","author":"D Beltr\u00e1n-Valero de Bernab\u00e9","year":"1999","unstructured":"Beltr\u00e1n-Valero de Bernab\u00e9 D, Jimenez FJ, Aquaron R, Rodr\u00edguez de C\u00f3rdoba S (1999) Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). Am J Hum Genet 64:1316\u20131322","journal-title":"Am J Hum Genet"},{"key":"534_CR3","unstructured":"Bonita R, Beaglehole R, Kjellstr\u00f6m T (2006) Basic epidemiology, 2nd edn. World Health Organization"},{"key":"534_CR4","unstructured":"Dondio W (1995) La regione atesina nella preistoria. R\u00e6tia"},{"key":"534_CR5","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1038\/ng0996-19","volume":"14","author":"JM Fern\u00e1ndez-Ca\u00f1\u00f3n","year":"1996","unstructured":"Fern\u00e1ndez-Ca\u00f1\u00f3n JM, Granadino B, Beltr\u00e1n-Valero de Bernab\u00e9 D et al (1996) The molecular basis of alkaptonuria. Nat Genet 14:19\u201324","journal-title":"Nat Genet"},{"key":"534_CR6","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.coph.2015.04.002","volume":"22","author":"JA Gallagher","year":"2015","unstructured":"Gallagher JA, Ranganath LR, Boyde A (2015) Lessons from rare diseases of cartilage and bone. Curr Opin Pharmacol 22:107\u2013114","journal-title":"Curr Opin Pharmacol"},{"key":"534_CR7","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1006\/geno.1997.4805","volume":"43","author":"B Granadino","year":"1997","unstructured":"Granadino B, Beltr\u00e1n-Valero de Bernab\u00e9 D, Fern\u00e1ndez-Ca\u00f1\u00f3n JM, Pe\u00f1alva MA, Rodr\u00edguez de C\u00f3rdoba S (1997) The human homogentisate 1,2-dioxygenase (HGO) gene. Genomics 43:115\u2013122","journal-title":"Genomics"},{"key":"534_CR8","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1016\/j.cca.2009.03.032","volume":"403","author":"JM Grasko","year":"2009","unstructured":"Grasko JM, Hooper AJ, Brown JW, McKnight CJ, Burnett JR (2009) A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria. Clin Chim Acta 403:254\u2013256","journal-title":"Clin Chim Acta"},{"key":"534_CR9","doi-asserted-by":"publisher","first-page":"1156","DOI":"10.1373\/clinchem.2004.032136","volume":"50","author":"M Liew","year":"2004","unstructured":"Liew M, Pryor R, Palais R et al (2004) Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. Clin Chem 50:1156\u20131164","journal-title":"Clin Chem"},{"key":"534_CR10","unstructured":"Livi-Bacci M (2012) A concise history of world population, 5th edn. Wiley-Blackwell"},{"key":"534_CR11","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1053\/S0049-0172(03)00080-5","volume":"33","author":"A Mannoni","year":"2004","unstructured":"Mannoni A, Selvi E, Lorenzini S et al (2004) Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum 33:239\u2013248","journal-title":"Semin Arthritis Rheum"},{"key":"534_CR12","doi-asserted-by":"publisher","first-page":"27475","DOI":"10.4161\/rdis.27475","volume":"1","author":"JB Mistry","year":"2013","unstructured":"Mistry JB, Bukhari M, Taylor AM (2013) Alkaptonuria. Rare Dis 1:27475","journal-title":"Rare Dis"},{"key":"534_CR13","doi-asserted-by":"publisher","first-page":"2111","DOI":"10.1056\/NEJMoa021736","volume":"347","author":"C Phornphutkul","year":"2002","unstructured":"Phornphutkul C, Introne WJ, Perry MB et al (2002) Natural history of alkaptonuria. N Engl J Med 347:2111\u20132121","journal-title":"N Engl J Med"},{"key":"534_CR14","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1136\/jmg.37.4.309","volume":"37","author":"B Porfirio","year":"2000","unstructured":"Porfirio B, Chiarelli I, Graziano C et al (2000) Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene. J Med Genet 37:309\u2013312","journal-title":"J Med Genet"},{"key":"534_CR15","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1007\/s10545-015-9888-7","volume":"38","author":"LR Ranganath","year":"2015","unstructured":"Ranganath LR, Timmis OG, Gallagher JA (2015) Progress in alkaptonuria \u2013are we near to an effective therapy? J Inherit Metab Dis 38:787\u2013789","journal-title":"J Inherit Metab Dis"},{"key":"534_CR16","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1002\/humu.1158","volume":"18","author":"B Rannala","year":"2001","unstructured":"Rannala B, Bertorelle G (2001) Using linked markers to infer the age of a mutation. Hum Mutat 18:87\u2013100","journal-title":"Hum Mutat"},{"key":"534_CR17","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1093\/bioinformatics\/18.6.894","volume":"18","author":"JP Reeve","year":"2002","unstructured":"Reeve JP, Rannala B (2002) DMLE+: Bayesian linkage disequilibrium gene mapping. Bioinformatics 18:894\u2013895","journal-title":"Bioinformatics"},{"key":"534_CR18","doi-asserted-by":"publisher","first-page":"6055","DOI":"10.1038\/srep06055","volume":"4","author":"D Shriner","year":"2014","unstructured":"Shriner D, Tekola-Ayele F, Adeyemo A, Rotimi CN (2014) Genome-wide genotype and sequence-based reconstruction of the 140,000 year history of modern human ancestry. Sci Rep 4:6055","journal-title":"Sci Rep"},{"key":"534_CR19","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1146\/annurev.genom.1.1.225","volume":"1","author":"M Slatkin","year":"2000","unstructured":"Slatkin M, Rannala B (2000) Estimating allele age. Annu Rev Genomics Hum Genet 1:225\u2013249","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"534_CR20","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1086\/428594","volume":"76","author":"M Stephens","year":"2005","unstructured":"Stephens M, Scheet P (2005) Accounting for decay of linkage disequilibrium in haplotype inference and missing data imputation. Am J Hum Genet 76:449\u2013462","journal-title":"Am J Hum Genet"},{"key":"534_CR21","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/j.metabol.2004.12.017","volume":"54","author":"P Suwannarat","year":"2005","unstructured":"Suwannarat P, O\u2019Brien K, Perry MB et al (2005) Use of nitisinone in patients with alkaptonuria. Metabolism 54:719\u2013728","journal-title":"Metabolism"},{"key":"534_CR22","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/8904_2014_380","volume":"24","author":"JL Usher","year":"2015","unstructured":"Usher JL, Ascher DB, Pires DE, Milan AM, Blundell TL, Ranganath LR (2015) Analysis of HGD gene mutations in patients with alkaptonuria from the United Kingdom: identification of novel mutations. JIMD Rep 24:3\u201311","journal-title":"JIMD Rep"},{"key":"534_CR23","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1136\/jcp.19.2.200","volume":"19","author":"K Valmikinathan","year":"1966","unstructured":"Valmikinathan K, Verghese N (1966) Simple colour reaction for alkaptonuria. J Clin Pathol 19:200","journal-title":"J Clin Pathol"},{"key":"534_CR24","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.1002\/humu.21120","volume":"30","author":"T Vilboux","year":"2009","unstructured":"Vilboux T, Kayser M, Introne W et al (2009) Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat 30:1611\u20131619","journal-title":"Hum Mutat"},{"key":"534_CR25","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1002\/humu.20951","volume":"30","author":"CT Wittwer","year":"2009","unstructured":"Wittwer CT (2009) High-resolution DNA melting analysis: advancements and limitations. Hum Mutat 30:857\u2013859","journal-title":"Hum Mutat"},{"key":"534_CR26","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1007\/8904_2011_68","volume":"4","author":"A Zatkova","year":"2012","unstructured":"Zatkova A, Sedlackova T, Radvansky J et al (2012) Identification of eleven novel homogentisate 1,2 dioxygenase (HGD) variants in alkaptonuria (AKU) patients and establishment of a novel LOVD based HGD mutation database. JIMD Rep 4:55\u201365","journal-title":"JIMD Rep"}],"container-title":["JIMD Reports","JIMD Reports, Volume 30"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2016_534","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T10:58:12Z","timestamp":1557485892000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2016_534"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"ISBN":["9783662536803","9783662536810"],"references-count":26,"URL":"https:\/\/doi.org\/10.1007\/8904_2016_534","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"type":"print","value":"2192-8304"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2016]]}}}