{"id":"https://openalex.org/W2148302734","doi":"https://doi.org/10.1038/ng925","title":"Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger\u2013Hu\u00ebt anomaly)","display_name":"Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger\u2013Hu\u00ebt anomaly)","publication_year":2002,"publication_date":"2002-07-15","ids":{"openalex":"https://openalex.org/W2148302734","doi":"https://doi.org/10.1038/ng925","mag":"2148302734","pmid":"https://pubmed.ncbi.nlm.nih.gov/12118250"},"language":"en","primary_location":{"id":"doi:10.1038/ng925","doi":"https://doi.org/10.1038/ng925","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng925","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","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/A5103416531","display_name":"Katrin Hoffmann","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I205582932","display_name":"Max Delbr\u00fcck Center","ror":"https://ror.org/04p5ggc03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I205582932"]},{"id":"https://openalex.org/I39343248","display_name":"Humboldt-Universit\u00e4t zu Berlin","ror":"https://ror.org/01hcx6992","country_code":"DE","type":"education","lineage":["https://openalex.org/I39343248"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Katrin Hoffmann","raw_affiliation_strings":["Gene Mapping Center, Max Delbr\u00fcck Center for Molecular Medicine and Franz Volhard Clinic, HELIOS Klinikum, Charit\u00e9, Humboldt University, Berlin, Germany","Gene Mapping Center, Max Delbr\u00fcck Center for Molecular Medicine, Robert-R\u00f6ssle-Str. 10, Berlin, D 13125, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gene Mapping Center, Max Delbr\u00fcck Center for Molecular Medicine and Franz Volhard Clinic, HELIOS Klinikum, Charit\u00e9, Humboldt University, Berlin, Germany","institution_ids":["https://openalex.org/I205582932","https://openalex.org/I39343248","https://openalex.org/I7877124"]},{"raw_affiliation_string":"Gene Mapping Center, Max Delbr\u00fcck Center for Molecular Medicine, Robert-R\u00f6ssle-Str. 10, Berlin, D 13125, Germany","institution_ids":["https://openalex.org/I205582932"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066944518","display_name":"Christine Karin Dreger","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I17937529","display_name":"German Cancer Research Center","ror":"https://ror.org/04cdgtt98","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I17937529"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Christine K. Dreger","raw_affiliation_strings":["German Cancer Research Center, Heidelberg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"German Cancer Research Center, Heidelberg, Germany","institution_ids":["https://openalex.org/I17937529"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111934497","display_name":"Ada L. Olins","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135474949","display_name":"Bowdoin College","ror":"https://ror.org/03gh96r95","country_code":"US","type":"education","lineage":["https://openalex.org/I135474949"]},{"id":"https://openalex.org/I4210090633","display_name":"Foundation for Blood Research","ror":"https://ror.org/00174r125","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210090633"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ada L. Olins","raw_affiliation_strings":["Foundation for Blood Research, Scarborough, Maine and new address Bowdoin College, Brunswick, Maine, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Foundation for Blood Research, Scarborough, Maine and new address Bowdoin College, Brunswick, Maine, USA","institution_ids":["https://openalex.org/I135474949","https://openalex.org/I4210090633"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015247015","display_name":"Donald E. Olins","orcid":"https://orcid.org/0000-0002-6088-0842","observed_orcids":["https://orcid.org/0000-0002-6088-0842"]},"institutions":[{"id":"https://openalex.org/I135474949","display_name":"Bowdoin College","ror":"https://ror.org/03gh96r95","country_code":"US","type":"education","lineage":["https://openalex.org/I135474949"]},{"id":"https://openalex.org/I4210090633","display_name":"Foundation for Blood Research","ror":"https://ror.org/00174r125","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210090633"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Donald E. Olins","raw_affiliation_strings":["Foundation for Blood Research, Scarborough, Maine and new address Bowdoin College, Brunswick, Maine, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Foundation for Blood Research, Scarborough, Maine and new address Bowdoin College, Brunswick, Maine, USA","institution_ids":["https://openalex.org/I135474949","https://openalex.org/I4210090633"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036394378","display_name":"Leonard D. Shultz","orcid":"https://orcid.org/0000-0002-4868-1031","observed_orcids":["https://orcid.org/0000-0002-4868-1031"]},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Leonard D. Shultz","raw_affiliation_strings":["The Jackson Laboratory, Bar Harbor, Maine, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory, Bar Harbor, Maine, USA","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032040356","display_name":"Barbara Lucke","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I205582932","display_name":"Max Delbr\u00fcck Center","ror":"https://ror.org/04p5ggc03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I205582932"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Barbara Lucke","raw_affiliation_strings":["Gene Mapping Center, Max Delbr\u00fcck Center for Molecular Medicine, Robert-R\u00f6ssle-Str. 10, Berlin, D 13125, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gene Mapping Center, Max Delbr\u00fcck Center for Molecular Medicine, Robert-R\u00f6ssle-Str. 10, Berlin, D 13125, Germany","institution_ids":["https://openalex.org/I205582932"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082908397","display_name":"H.-G Karl","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hartmut Karl","raw_affiliation_strings":["Gelenau, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gelenau, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Reinhard Kaps","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801931480","display_name":"German Red Cross","ror":"https://ror.org/02y3dtg29","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2801931480"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Reinhard Kaps","raw_affiliation_strings":["Institute of Transfusion Medicine, DRK, Chemnitz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Transfusion Medicine, DRK, Chemnitz, Germany","institution_ids":["https://openalex.org/I2801931480"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017904465","display_name":"Dietmar M\u00fcller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162138","display_name":"Klinikum Chemnitz","ror":"https://ror.org/04wkp4f46","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210162138"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Dietmar M\u00fcller","raw_affiliation_strings":["Institute of Medical Genetics, Klinikum Chemnitz, Chemnitz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, Klinikum Chemnitz, Chemnitz, Germany","institution_ids":["https://openalex.org/I4210162138"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057986151","display_name":"Amparo Vay\u00e1","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3019010403","display_name":"Hospital Universitari i Polit\u00e8cnic La Fe","ror":"https://ror.org/01ar2v535","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I3019010403","https://openalex.org/I4210166036"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Amparo Vay\u00e1","raw_affiliation_strings":["Department of Clinical Pathology, La Fe University Hospital, Valencia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Pathology, La Fe University Hospital, Valencia, Spain","institution_ids":["https://openalex.org/I3019010403"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111994471","display_name":"Justo Aznar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3019010403","display_name":"Hospital Universitari i Polit\u00e8cnic La Fe","ror":"https://ror.org/01ar2v535","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I3019010403","https://openalex.org/I4210166036"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Justo Aznar","raw_affiliation_strings":["Department of Clinical Pathology, La Fe University Hospital, Valencia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Pathology, La Fe University Hospital, Valencia, Spain","institution_ids":["https://openalex.org/I3019010403"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040752648","display_name":"Russell E. Ware","orcid":"https://orcid.org/0000-0001-9582-0594","observed_orcids":["https://orcid.org/0000-0001-9582-0594"]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Russell E. Ware","raw_affiliation_strings":["Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024109836","display_name":"Norberto Sotelo Cruz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Norberto Sotelo Cruz","raw_affiliation_strings":["Hospital Infantil del Estado de Sonora, Hermosillo, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Infantil del Estado de Sonora, Hermosillo, Mexico","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002918632","display_name":"Tom H. Lindner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126310","display_name":"Universit\u00e4tsklinikum W\u00fcrzburg","ror":"https://ror.org/03pvr2g57","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210126310"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Tom H. Lindner","raw_affiliation_strings":["Department of Nephrology, Medical University Clinic, W\u00fcrzburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology, Medical University Clinic, W\u00fcrzburg, Germany","institution_ids":["https://openalex.org/I4210126310"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052025914","display_name":"Harald O. Herrmann","orcid":"https://orcid.org/0000-0002-9959-1781","observed_orcids":["https://orcid.org/0000-0002-9959-1781"]},"institutions":[{"id":"https://openalex.org/I17937529","display_name":"German Cancer Research Center","ror":"https://ror.org/04cdgtt98","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I17937529"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Harald Herrmann","raw_affiliation_strings":["German Cancer Research Center, Heidelberg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"German Cancer Research Center, Heidelberg, Germany","institution_ids":["https://openalex.org/I17937529"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082130600","display_name":"Andr\u00e9 Reis","orcid":"https://orcid.org/0000-0002-6301-6363","observed_orcids":["https://orcid.org/0000-0002-6301-6363"]},"institutions":[{"id":"https://openalex.org/I181369854","display_name":"Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","ror":"https://ror.org/00f7hpc57","country_code":"DE","type":"education","lineage":["https://openalex.org/I181369854"]},{"id":"https://openalex.org/I205582932","display_name":"Max Delbr\u00fcck Center","ror":"https://ror.org/04p5ggc03","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I205582932"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Andr\u00e9 Reis","raw_affiliation_strings":["Gene Mapping Center, Max Delbr\u00fcck Center for Molecular Medicine, Robert-R\u00f6ssle-Str. 10, Berlin, D 13125, Germany","Institute of Human Genetics, University of Erlangen\u2013N\u00fcrnberg, Erlangen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gene Mapping Center, Max Delbr\u00fcck Center for Molecular Medicine, Robert-R\u00f6ssle-Str. 10, Berlin, D 13125, Germany","institution_ids":["https://openalex.org/I205582932"]},{"raw_affiliation_string":"Institute of Human Genetics, University of Erlangen\u2013N\u00fcrnberg, Erlangen, Germany","institution_ids":["https://openalex.org/I181369854"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5062257202","display_name":"Karl Sperling","orcid":"https://orcid.org/0000-0003-2305-4370","observed_orcids":["https://orcid.org/0000-0003-2305-4370"]},"institutions":[{"id":"https://openalex.org/I39343248","display_name":"Humboldt-Universit\u00e4t zu Berlin","ror":"https://ror.org/01hcx6992","country_code":"DE","type":"education","lineage":["https://openalex.org/I39343248"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Karl Sperling","raw_affiliation_strings":["Institute of Human Genetics, Charit\u00e9, Humboldt University, Augustenburger Platz 1, Berlin, D 13353, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, Charit\u00e9, Humboldt University, Augustenburger Platz 1, Berlin, D 13353, Germany","institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5062257202"],"corresponding_institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":5.9658,"has_fulltext":false,"cited_by_count":345,"citation_normalized_percentile":{"value":0.97570357,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"31","issue":"4","first_page":"410","last_page":"414"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11841","display_name":"Nuclear Structure and Function","score":0.9984999895095825,"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/T11841","display_name":"Nuclear Structure and Function","score":0.9984999895095825,"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/T12919","display_name":"Blood disorders and treatments","score":0.0003000000142492354,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pelger-huet-anomaly","display_name":"Pelger-Huet anomaly","score":0.9779999852180481},{"id":"https://openalex.org/keywords/lamin-b-receptor","display_name":"lamin B receptor","score":0.9950000047683716},{"id":"https://openalex.org/keywords/neutrophil-nuclear-morphology","display_name":"neutrophil nuclear morphology","score":0.7649999856948853},{"id":"https://openalex.org/keywords/chromatin-organization","display_name":"chromatin organization","score":0.6449999809265137},{"id":"https://openalex.org/keywords/inner-nuclear-membrane","display_name":"inner nuclear membrane","score":0.8080000281333923},{"id":"https://openalex.org/keywords/heterochromatin","display_name":"heterochromatin","score":0.8489999771118164},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.7789999842643738},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7870000004768372},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.9769999980926514},{"id":"https://openalex.org/keywords/chondrodystrophy","display_name":"chondrodystrophy","score":0.7260000109672546},{"id":"https://openalex.org/keywords/autosomal-dominant-disorder","display_name":"autosomal dominant disorder","score":0.7369999885559082}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8991643190383911},{"id":"https://openalex.org/C179093185","wikidata":"https://www.wikidata.org/wiki/Q424506","display_name":"Lamin","level":3,"score":0.8947354555130005},{"id":"https://openalex.org/C103435993","wikidata":"https://www.wikidata.org/wiki/Q837783","display_name":"Heterochromatin","level":4,"score":0.7304493188858032},{"id":"https://openalex.org/C83640560","wikidata":"https://www.wikidata.org/wiki/Q180951","display_name":"Chromatin","level":3,"score":0.670387864112854},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.586297333240509},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4998464584350586},{"id":"https://openalex.org/C63932345","wikidata":"https://www.wikidata.org/wiki/Q422500","display_name":"Nuclear receptor","level":4,"score":0.46561741828918457},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.40966448187828064},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3264819383621216},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2702319025993347},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2643411159515381},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000097682","descriptor_name":"Lamin B Receptor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002878","descriptor_name":"Chromosomes, Human, Pair 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006098","descriptor_name":"Granulocytes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D008040","descriptor_name":"Genetic Linkage","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010381","descriptor_name":"Pelger-Huet Anomaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010381","descriptor_name":"Pelger-Huet Anomaly","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D013548","descriptor_name":"Sweden","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018160","descriptor_name":"Receptors, Cytoplasmic and Nuclear","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018160","descriptor_name":"Receptors, Cytoplasmic and Nuclear","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1038/ng925","doi":"https://doi.org/10.1038/ng925","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng925","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},{"id":"pmid:12118250","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12118250","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":"Nature genetics","raw_type":"Journal Article"},{"id":"pmh:oai:mouseion.jax.org:stfb2000_2009-1462","doi":null,"is_oa":false,"landing_page_url":"https://mouseion.jax.org/stfb2000_2009/463","pdf_url":null,"source":{"id":"https://openalex.org/S4377196421","display_name":"The Mouseion at the JAXlibrary (Jackson Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210115256","host_organization_name":"Jackson Laboratory","host_organization_lineage":["https://openalex.org/I4210115256"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Faculty Research 2000 - 2009","raw_type":"text"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.7246000170707703,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W166937865","https://openalex.org/W1487741670","https://openalex.org/W1503184886","https://openalex.org/W1606671736","https://openalex.org/W1837808839","https://openalex.org/W1934956719","https://openalex.org/W1964952136","https://openalex.org/W1970902300","https://openalex.org/W1971883239","https://openalex.org/W1971934332","https://openalex.org/W1999412768","https://openalex.org/W2002050584","https://openalex.org/W2008679927","https://openalex.org/W2020764507","https://openalex.org/W2021004688","https://openalex.org/W2042346825","https://openalex.org/W2049310480","https://openalex.org/W2058124421","https://openalex.org/W2074619637","https://openalex.org/W2081818625","https://openalex.org/W2102766053","https://openalex.org/W2114526838","https://openalex.org/W2136574350","https://openalex.org/W2319895746","https://openalex.org/W4238224494"],"related_works":["https://openalex.org/W1996946662","https://openalex.org/W2312390913","https://openalex.org/W2047917197","https://openalex.org/W2131554062","https://openalex.org/W4413998486","https://openalex.org/W2053931995","https://openalex.org/W4281665365","https://openalex.org/W2789899575","https://openalex.org/W2009811047","https://openalex.org/W7135668180"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":12},{"year":2024,"cited_by_count":12},{"year":2023,"cited_by_count":14},{"year":2022,"cited_by_count":13},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":18},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":16},{"year":2017,"cited_by_count":10},{"year":2016,"cited_by_count":16},{"year":2015,"cited_by_count":14},{"year":2014,"cited_by_count":13},{"year":2013,"cited_by_count":9},{"year":2012,"cited_by_count":14}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}