{"id":"https://openalex.org/W2124368692","doi":"https://doi.org/10.1081/hem-120026051","title":"Hb Castilla [\u03b232(B14)Leu \u2192 Arg] Caused by a De Novo Mutation","display_name":"Hb Castilla [\u03b232(B14)Leu \u2192 Arg] Caused by a De Novo Mutation","publication_year":2003,"publication_date":"2003-01-01","ids":{"openalex":"https://openalex.org/W2124368692","doi":"https://doi.org/10.1081/hem-120026051","mag":"2124368692","pmid":"https://pubmed.ncbi.nlm.nih.gov/14649317"},"language":"en","primary_location":{"id":"doi:10.1081/hem-120026051","doi":"https://doi.org/10.1081/hem-120026051","is_oa":false,"landing_page_url":"https://doi.org/10.1081/hem-120026051","pdf_url":null,"source":{"id":"https://openalex.org/S81929299","display_name":"Hemoglobin","issn_l":"0363-0269","issn":["0363-0269","1532-432X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hemoglobin","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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":null,"display_name":"Lynda Walker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093389","display_name":"Hamilton Regional Laboratory Medicine Program","ror":"https://ror.org/00epxwq78","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4210093389"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Lynda Walker","raw_affiliation_strings":["Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada","institution_ids":["https://openalex.org/I4210093389"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030451412","display_name":"Andrew G. McFarlane","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093389","display_name":"Hamilton Regional Laboratory Medicine Program","ror":"https://ror.org/00epxwq78","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4210093389"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Andrew McFarlane","raw_affiliation_strings":["Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada","institution_ids":["https://openalex.org/I4210093389"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108534105","display_name":"M Patterson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093389","display_name":"Hamilton Regional Laboratory Medicine Program","ror":"https://ror.org/00epxwq78","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4210093389"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Margie Patterson","raw_affiliation_strings":["Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada","institution_ids":["https://openalex.org/I4210093389"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110197360","display_name":"Barry Eng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093389","display_name":"Hamilton Regional Laboratory Medicine Program","ror":"https://ror.org/00epxwq78","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4210093389"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Barry Eng","raw_affiliation_strings":["Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada","institution_ids":["https://openalex.org/I4210093389"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5007275477","display_name":"John S. Waye","orcid":"https://orcid.org/0000-0002-7521-3356","observed_orcids":["https://orcid.org/0000-0002-7521-3356"]},"institutions":[{"id":"https://openalex.org/I2801259263","display_name":"McMaster University Medical Centre","ror":"https://ror.org/05jyrng31","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801259263","https://openalex.org/I76442945"]},{"id":"https://openalex.org/I4210093389","display_name":"Hamilton Regional Laboratory Medicine Program","ror":"https://ror.org/00epxwq78","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4210093389"]},{"id":"https://openalex.org/I98251732","display_name":"McMaster University","ror":"https://ror.org/02fa3aq29","country_code":"CA","type":"education","lineage":["https://openalex.org/I98251732"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"John S. Waye","raw_affiliation_strings":["Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada; Department of Pathology and Molecular Medicine, McMaster University Medical Centre, Room 3N17, McMaster University Faculty of Health Sciences, 1200 Main Street West, Hamilton, Ontario, L8N 3Z5, Canada","Department of Pathology and Molecular Medicine, McMaster University Medical Centre, Room 3N17, McMaster University Faculty of Health Sciences, 1200 Main Street West, Hamilton, Ontario, L8N 3Z5, Canada; Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada; Department of Pathology and Molecular Medicine, McMaster University Medical Centre, Room 3N17, McMaster University Faculty of Health Sciences, 1200 Main Street West, Hamilton, Ontario, L8N 3Z5, Canada","institution_ids":["https://openalex.org/I2801259263","https://openalex.org/I4210093389","https://openalex.org/I98251732"]},{"raw_affiliation_string":"Department of Pathology and Molecular Medicine, McMaster University Medical Centre, Room 3N17, McMaster University Faculty of Health Sciences, 1200 Main Street West, Hamilton, Ontario, L8N 3Z5, Canada; Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada","institution_ids":["https://openalex.org/I2801259263","https://openalex.org/I4210093389","https://openalex.org/I98251732"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2126,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.54564846,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"27","issue":"4","first_page":"253","last_page":"256"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T12094","display_name":"Hemoglobin structure and function","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/T11660","display_name":"Blood groups and transfusion","score":0.00019999999494757503,"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/hemoglobinopathies","display_name":"hemoglobinopathies","score":0.7120000123977661},{"id":"https://openalex.org/keywords/beta-globin-gene-mutations","display_name":"beta-globin gene mutations","score":0.7289999723434448},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.9129999876022339},{"id":"https://openalex.org/keywords/hemolytic-anemia","display_name":"hemolytic anemia","score":0.8669999837875366},{"id":"https://openalex.org/keywords/infants","display_name":"infants","score":0.40400001406669617},{"id":"https://openalex.org/keywords/northern-european-ancestry","display_name":"Northern European ancestry","score":0.5040000081062317}],"concepts":[{"id":"https://openalex.org/C2776175824","wikidata":"https://www.wikidata.org/wiki/Q1145668","display_name":"Hemolytic anemia","level":2,"score":0.600538432598114},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5536876916885376},{"id":"https://openalex.org/C2778248108","wikidata":"https://www.wikidata.org/wiki/Q5445","display_name":"Anemia","level":2,"score":0.44887495040893555},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.4319496750831604},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4143870770931244},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3128845989704132},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.29584941267967224},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.21709558367729187},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.19426193833351135},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13500872254371643}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000743","descriptor_name":"Anemia, Hemolytic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005192","descriptor_name":"Family Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005810","descriptor_name":"Multigene Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005914","descriptor_name":"Globins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006455","descriptor_name":"Hemoglobins, Abnormal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1081/hem-120026051","doi":"https://doi.org/10.1081/hem-120026051","is_oa":false,"landing_page_url":"https://doi.org/10.1081/hem-120026051","pdf_url":null,"source":{"id":"https://openalex.org/S81929299","display_name":"Hemoglobin","issn_l":"0363-0269","issn":["0363-0269","1532-432X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hemoglobin","raw_type":"journal-article"},{"id":"pmid:14649317","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/14649317","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":"Hemoglobin","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1989221580","https://openalex.org/W1994049497","https://openalex.org/W1998946839","https://openalex.org/W2011518069","https://openalex.org/W2042349607","https://openalex.org/W2052012202","https://openalex.org/W2090713412","https://openalex.org/W2092921901","https://openalex.org/W2122421735","https://openalex.org/W2150858326"],"related_works":["https://openalex.org/W3033555262","https://openalex.org/W1998946839","https://openalex.org/W2783848091","https://openalex.org/W2146359216","https://openalex.org/W2070098254","https://openalex.org/W2100929998","https://openalex.org/W2007446375","https://openalex.org/W1995218766","https://openalex.org/W2895189514","https://openalex.org/W2016778517"],"abstract_inverted_index":{"We":[0],"report":[1],"the":[2],"case":[3],"of":[4,15,29],"an":[5],"8\u2010month\u2010old":[6],"boy":[7],"with":[8],"persistent":[9],"hemolytic":[10],"anemia.":[11],"His":[12],"parents":[13],"are":[14],"Northern":[16],"European":[17],"ancestry":[18],"and":[19],"have":[20],"normal":[21],"hematological":[22],"profiles.":[23],"There":[24],"is":[25],"no":[26],"family":[27],"history":[28],"hemogl...":[30]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2020,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
