{"id":"https://openalex.org/W66673109","doi":"https://doi.org/10.1055/s-0038-1653751","title":"Prothrombin Frankfurt: A Dysfunctional Prothrombin Characterized by Substitution of Glu-466 by Ala","display_name":"Prothrombin Frankfurt: A Dysfunctional Prothrombin Characterized by Substitution of Glu-466 by Ala","publication_year":1995,"publication_date":"1995-01-01","ids":{"openalex":"https://openalex.org/W66673109","doi":"https://doi.org/10.1055/s-0038-1653751","mag":"66673109","pmid":"https://pubmed.ncbi.nlm.nih.gov/7792730"},"language":"en","primary_location":{"id":"doi:10.1055/s-0038-1653751","doi":"https://doi.org/10.1055/s-0038-1653751","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0038-1653751","pdf_url":null,"source":{"id":"https://openalex.org/S206235894","display_name":"Thrombosis and Haemostasis","issn_l":"0340-6245","issn":["0340-6245","2567-689X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Thrombosis and Haemostasis","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/A5112252558","display_name":"Sandra J. Friezner Degen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sandra J Friezner Degen","raw_affiliation_strings":["The Children\u2019s Hospital Research Foundation and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Children\u2019s Hospital Research Foundation and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA","institution_ids":["https://openalex.org/I63135867"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109133066","display_name":"Susan A. McDowell","orcid":"https://orcid.org/0009-0005-5317-3591","observed_orcids":["https://orcid.org/0009-0005-5317-3591"]},"institutions":[{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Susan A McDowell","raw_affiliation_strings":["The Children\u2019s Hospital Research Foundation and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Children\u2019s Hospital Research Foundation and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA","institution_ids":["https://openalex.org/I63135867"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085467905","display_name":"Leah M Sparks","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Leah M Sparks","raw_affiliation_strings":["The Children\u2019s Hospital Research Foundation and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Children\u2019s Hospital Research Foundation and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA","institution_ids":["https://openalex.org/I63135867"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109120691","display_name":"I. Scharrer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210132578","display_name":"University Hospital Frankfurt","ror":"https://ror.org/03f6n9m15","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210132578"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Inge Scharrer","raw_affiliation_strings":["The University Hospital Center of Internal Medicine, Frankfurt am Main, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The University Hospital Center of Internal Medicine, Frankfurt am Main, Germany","institution_ids":["https://openalex.org/I4210132578"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.4238,"has_fulltext":false,"cited_by_count":29,"citation_normalized_percentile":{"value":0.57712465,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"73","issue":"02","first_page":"203","last_page":"209"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10881","display_name":"Blood Coagulation and Thrombosis Mechanisms","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10881","display_name":"Blood Coagulation and Thrombosis Mechanisms","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11721","display_name":"Blood properties and coagulation","score":0.0015999999595806003,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10746","display_name":"Platelet Disorders and Treatments","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/prothrombin-gene-mutation","display_name":"prothrombin gene mutation","score":0.703000009059906},{"id":"https://openalex.org/keywords/prothrombin-gene","display_name":"prothrombin gene","score":0.5640000104904175},{"id":"https://openalex.org/keywords/prothrombin","display_name":"prothrombin","score":0.5299999713897705}],"concepts":[{"id":"https://openalex.org/C27502469","wikidata":"https://www.wikidata.org/wiki/Q906343","display_name":"Dysfunctional family","level":2,"score":0.7280226349830627},{"id":"https://openalex.org/C2777091921","wikidata":"https://www.wikidata.org/wiki/Q2044524","display_name":"Prothrombin complex concentrate","level":4,"score":0.5626114010810852},{"id":"https://openalex.org/C2778220771","wikidata":"https://www.wikidata.org/wiki/Q1522579","display_name":"Substitution (logic)","level":2,"score":0.5038666129112244},{"id":"https://openalex.org/C2909974469","wikidata":"https://www.wikidata.org/wiki/Q2044524","display_name":"PROTHROMBIN COMPLEX","level":3,"score":0.4761338531970978},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.469806969165802},{"id":"https://openalex.org/C2780434524","wikidata":"https://www.wikidata.org/wiki/Q1144385","display_name":"Prothrombin time","level":2,"score":0.4390517771244049},{"id":"https://openalex.org/C2780868729","wikidata":"https://www.wikidata.org/wiki/Q261327","display_name":"Thrombosis","level":2,"score":0.43280139565467834},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.40121668577194214},{"id":"https://openalex.org/C2776301958","wikidata":"https://www.wikidata.org/wiki/Q407431","display_name":"Warfarin","level":3,"score":0.26323896646499634},{"id":"https://openalex.org/C70410870","wikidata":"https://www.wikidata.org/wiki/Q199906","display_name":"Clinical psychology","level":1,"score":0.1429537534713745},{"id":"https://openalex.org/C2778382381","wikidata":"https://www.wikidata.org/wiki/Q179217","display_name":"Coagulation","level":2,"score":0.14021825790405273},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.1300208568572998},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0},{"id":"https://openalex.org/C2779161974","wikidata":"https://www.wikidata.org/wiki/Q815819","display_name":"Atrial fibrillation","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000409","descriptor_name":"Alanine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011516","descriptor_name":"Prothrombin","qualifier_ui":"Q000031","qualifier_name":"analogs & derivatives","is_major_topic":true},{"descriptor_ui":"D011516","descriptor_name":"Prothrombin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015183","descriptor_name":"Restriction Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018698","descriptor_name":"Glutamic Acid","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1055/s-0038-1653751","doi":"https://doi.org/10.1055/s-0038-1653751","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0038-1653751","pdf_url":null,"source":{"id":"https://openalex.org/S206235894","display_name":"Thrombosis and Haemostasis","issn_l":"0340-6245","issn":["0340-6245","2567-689X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Thrombosis and Haemostasis","raw_type":"journal-article"},{"id":"pmid:7792730","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7792730","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":"Thrombosis and haemostasis","raw_type":"Case Reports"}],"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":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G804528052","display_name":null,"funder_award_id":"HL 38232","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":37,"referenced_works":["https://openalex.org/W68710030","https://openalex.org/W1514804432","https://openalex.org/W1518197977","https://openalex.org/W1549987277","https://openalex.org/W1601862399","https://openalex.org/W1963779554","https://openalex.org/W1969970275","https://openalex.org/W1971560358","https://openalex.org/W1980947524","https://openalex.org/W1985407614","https://openalex.org/W1985426218","https://openalex.org/W1994276989","https://openalex.org/W1996027687","https://openalex.org/W1999332064","https://openalex.org/W2007864656","https://openalex.org/W2017687573","https://openalex.org/W2025023961","https://openalex.org/W2027877275","https://openalex.org/W2029249710","https://openalex.org/W2031387417","https://openalex.org/W2032118018","https://openalex.org/W2037268137","https://openalex.org/W2042139769","https://openalex.org/W2057612752","https://openalex.org/W2058831382","https://openalex.org/W2073566194","https://openalex.org/W2074524815","https://openalex.org/W2074559130","https://openalex.org/W2075525070","https://openalex.org/W2076470900","https://openalex.org/W2077182436","https://openalex.org/W2081753893","https://openalex.org/W2086997327","https://openalex.org/W2410971362","https://openalex.org/W2414800428","https://openalex.org/W2416269562","https://openalex.org/W2427897045"],"related_works":["https://openalex.org/W1994276989","https://openalex.org/W2412820600","https://openalex.org/W2009520402","https://openalex.org/W2013015862","https://openalex.org/W2365402033","https://openalex.org/W175369011","https://openalex.org/W1601862399","https://openalex.org/W2439148591","https://openalex.org/W2022225356","https://openalex.org/W2075525070"],"abstract_inverted_index":{"We":[0],"have":[1,11],"identified":[2,141,164],"a":[3,6,20,37,82],"patient":[4],"with":[5,36],"dysfunctional":[7,147],"prothrombin":[8,21,39,54,78,93,167],"that":[9],"we":[10],"designated":[12],"Prothrombin":[13,149],"Frankfurt.":[14],"The":[15,47,109,134],"proband":[16,97,110,171],"was":[17,56,98,139,152],"characterized":[18],"by":[19,58,64,71,107],"activity":[22,55],"level":[23,41],"of":[24,42,44,75,81,95,105],"13%":[25],"and":[26,70,111,151,183],"20%":[27],"compared":[28,173],"to":[29,128,142,154,174],"normal":[30,38,45],"controls":[31],"using":[32],"two":[33],"different":[34],"assays":[35],"antigen":[40],"91%":[43],"controls.":[46],"genetic":[48],"defect":[49],"responsible":[50,144],"for":[51,84,116,131,145],"the":[52,59,76,91,96,103,146,166,170,175],"abnormal":[53],"determined":[57],"polymerase":[60],"chain":[61],"reaction":[62],"followed":[63],"single-strand":[65],"conformation":[66],"polymorphism":[67],"(PCR-SSCP)":[68],"analysis":[69,74],"DNA":[72],"sequence":[73,177],"human":[77,92],"gene.":[79],"Substitution":[80],"C":[83],"an":[85],"A":[86],"at":[87,178],"nucleotide":[88],"10177":[89],"in":[90,102,156,165],"gene":[94,168],"identified,":[99],"which":[100],"results":[101],"replacement":[104],"Glu-466":[106],"Ala.":[108],"one":[112,124],"sister":[113],"were":[114,126,162],"homozygous":[115],"this":[117,132],"mutation.":[118,133],"Both":[119],"parents,":[120],"as":[121,123],"well":[122],"brother,":[125],"found":[127],"be":[129,143],"heterozygous":[130],"same":[135],"amino":[136],"acid":[137],"substitution":[138],"previously":[140],"protein":[148],"Salakta":[150],"hypothesized":[153],"result":[155],"altered":[157],"substrate":[158],"specificity.":[159],"Four":[160],"polymorphisms":[161],"also":[163],"from":[169],"when":[172],"published":[176],"nucleotides":[179],"554,":[180],"4048,":[181],"4272":[182],"10253.":[184]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2017,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
