{"id":"https://openalex.org/W20231971","doi":"https://doi.org/10.1007/s00467-002-1011-2","title":"A note on mutation analysis in familial Mediterranean fever","display_name":"A note on mutation analysis in familial Mediterranean fever","publication_year":2003,"publication_date":"2003-02-01","ids":{"openalex":"https://openalex.org/W20231971","doi":"https://doi.org/10.1007/s00467-002-1011-2","mag":"20231971","pmid":"https://pubmed.ncbi.nlm.nih.gov/12632594"},"language":"en","primary_location":{"id":"doi:10.1007/s00467-002-1011-2","doi":"https://doi.org/10.1007/s00467-002-1011-2","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00467-002-1011-2","pdf_url":null,"source":{"id":"https://openalex.org/S25178087","display_name":"Pediatric Nephrology","issn_l":"0931-041X","issn":["0931-041X","1432-198X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Nephrology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5082504401","display_name":"Nejat Akar","orcid":"https://orcid.org/0000-0001-8228-8885","observed_orcids":["https://orcid.org/0000-0001-8228-8885"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Nejat Akar","raw_affiliation_strings":["Department of Pediatric Molecular Genetics, Ankara University, Ankara, Turkey,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Molecular Genetics, Ankara University, Ankara, Turkey,","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019536039","display_name":"Ece Akar","orcid":"https://orcid.org/0000-0001-7628-4722","observed_orcids":["https://orcid.org/0000-0001-7628-4722"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ece Akar","raw_affiliation_strings":["Department of Pediatric Molecular Genetics, Ankara University, Ankara, Turkey,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Molecular Genetics, Ankara University, Ankara, Turkey,","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041139672","display_name":"Duygu \u00d6zel Demiralp","orcid":"https://orcid.org/0000-0002-1798-7951","observed_orcids":["https://orcid.org/0000-0002-1798-7951"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Duygu \u00d6zel","raw_affiliation_strings":["Department of Pediatric Molecular Genetics, Ankara University, Ankara, Turkey,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Molecular Genetics, Ankara University, Ankara, Turkey,","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075112348","display_name":"Mustafa Tekin","orcid":"https://orcid.org/0000-0002-3525-7960","observed_orcids":["https://orcid.org/0000-0002-3525-7960"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Mustafa Tekin","raw_affiliation_strings":["Department of Pediatric Molecular Genetics, Ankara University, Ankara, Turkey,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Molecular Genetics, Ankara University, Ankara, Turkey,","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113984831","display_name":"Mes\u0131\u0307ha Ek\u0131\u0307m","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Mesiha Ekim","raw_affiliation_strings":["Department of Pediatric Nephrology, Ankara University, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Nephrology, Ankara University, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5049338707","display_name":"Fato\u015f Yal\u00e7\u0131nkaya","orcid":"https://orcid.org/0000-0002-6467-7470","observed_orcids":["https://orcid.org/0000-0002-6467-7470"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Fatos Yal\u00e7\u0131nkaya","raw_affiliation_strings":["Department of Pediatric Nephrology, Ankara University, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Nephrology, Ankara University, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5082504401"],"corresponding_institution_ids":["https://openalex.org/I149218525"],"apc_list":{"value":4337,"currency":"USD","value_usd":4337},"apc_paid":null,"fwci":0.1149,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.41885289,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"18","issue":"2","first_page":"196","last_page":"197"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.9628999829292297,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.9628999829292297,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.006500000134110451,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.0032999999821186066,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-mediterranean-fever","display_name":"familial Mediterranean fever","score":0.9980000257492065},{"id":"https://openalex.org/keywords/mutation-analysis","display_name":"mutation analysis","score":0.8429999947547913},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.5830000042915344},{"id":"https://openalex.org/keywords/pmr1","display_name":"PMR1","score":0.44200000166893005}],"concepts":[{"id":"https://openalex.org/C2779537928","wikidata":"https://www.wikidata.org/wiki/Q1144618","display_name":"Familial Mediterranean fever","level":3,"score":0.878783106803894},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8161805868148804},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5793720483779907},{"id":"https://openalex.org/C54847362","wikidata":"https://www.wikidata.org/wiki/Q177635","display_name":"Nephrology","level":2,"score":0.5539883971214294},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4563917815685272},{"id":"https://openalex.org/C163565370","wikidata":"https://www.wikidata.org/wiki/Q4308623","display_name":"Mutation testing","level":4,"score":0.4324004054069519},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4018076956272125},{"id":"https://openalex.org/C159047783","wikidata":"https://www.wikidata.org/wiki/Q7215","display_name":"Virology","level":1,"score":0.34385234117507935},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1289316713809967},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.10714468359947205},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.09023287892341614}],"mesh":[{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010505","descriptor_name":"Familial Mediterranean Fever","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/s00467-002-1011-2","doi":"https://doi.org/10.1007/s00467-002-1011-2","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00467-002-1011-2","pdf_url":null,"source":{"id":"https://openalex.org/S25178087","display_name":"Pediatric Nephrology","issn_l":"0931-041X","issn":["0931-041X","1432-198X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Nephrology","raw_type":"journal-article"},{"id":"pmid:12632594","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12632594","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric nephrology (Berlin, Germany)","raw_type":"Letter"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":9,"referenced_works":["https://openalex.org/W1964255470","https://openalex.org/W1976339111","https://openalex.org/W1980442164","https://openalex.org/W2095834327","https://openalex.org/W2131709106","https://openalex.org/W2140276493","https://openalex.org/W2242165656","https://openalex.org/W2417496306","https://openalex.org/W2624936342"],"related_works":["https://openalex.org/W2416653312","https://openalex.org/W2474782996","https://openalex.org/W2418503169","https://openalex.org/W4312066698","https://openalex.org/W63240869","https://openalex.org/W2462723104","https://openalex.org/W2419088540","https://openalex.org/W2419595489","https://openalex.org/W2199709208","https://openalex.org/W2396049711"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
