{"id":"https://openalex.org/W2945305799","doi":"https://doi.org/10.1016/j.cca.2019.03.427","title":"A rare low-density lipoprotein receptor (LDLR) gene mutation associated with heterozygous familial hypercholesterolemia","display_name":"A rare low-density lipoprotein receptor (LDLR) gene mutation associated with heterozygous familial hypercholesterolemia","publication_year":2019,"publication_date":"2019-05-15","ids":{"openalex":"https://openalex.org/W2945305799","doi":"https://doi.org/10.1016/j.cca.2019.03.427","mag":"2945305799"},"language":"en","primary_location":{"id":"doi:10.1016/j.cca.2019.03.427","doi":"https://doi.org/10.1016/j.cca.2019.03.427","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.cca.2019.03.427","pdf_url":null,"source":{"id":"https://openalex.org/S207549998","display_name":"Clinica Chimica Acta","issn_l":"0009-8981","issn":["0009-8981","1873-3492"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinica Chimica Acta","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"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/A5112208206","display_name":"Mar\u00eda Ortiz Espejo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099858","display_name":"Marqu\u00e9s de Valdecilla University Hospital","ror":"https://ror.org/01w4yqf75","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210099858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"M. Ortiz Espejo","raw_affiliation_strings":["Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain","institution_ids":["https://openalex.org/I4210099858"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039770288","display_name":"Ricardo Batanero Maguregui","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099858","display_name":"Marqu\u00e9s de Valdecilla University Hospital","ror":"https://ror.org/01w4yqf75","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210099858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"R. Batanero Maguregui","raw_affiliation_strings":["Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain","institution_ids":["https://openalex.org/I4210099858"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019010937","display_name":"C. Montalb\u00e1n Carrasco","orcid":"https://orcid.org/0009-0009-0435-108X","observed_orcids":["https://orcid.org/0009-0009-0435-108X"]},"institutions":[{"id":"https://openalex.org/I4210099858","display_name":"Marqu\u00e9s de Valdecilla University Hospital","ror":"https://ror.org/01w4yqf75","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210099858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"C. Montalban Carrasco","raw_affiliation_strings":["Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain","institution_ids":["https://openalex.org/I4210099858"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110156920","display_name":"Mar\u00eda Piedra Le\u00f3n","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099858","display_name":"Marqu\u00e9s de Valdecilla University Hospital","ror":"https://ror.org/01w4yqf75","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210099858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"M. Piedra Le\u00f3n","raw_affiliation_strings":["Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain","institution_ids":["https://openalex.org/I4210099858"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000625232","display_name":"Romina Garc\u00eda Sardina","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099858","display_name":"Marqu\u00e9s de Valdecilla University Hospital","ror":"https://ror.org/01w4yqf75","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210099858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"R. Garc\u00eda Sardina","raw_affiliation_strings":["Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain","institution_ids":["https://openalex.org/I4210099858"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007874055","display_name":"C. Esparza Del Valle","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099858","display_name":"Marqu\u00e9s de Valdecilla University Hospital","ror":"https://ror.org/01w4yqf75","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210099858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"C. Esparza Del Valle","raw_affiliation_strings":["Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain","institution_ids":["https://openalex.org/I4210099858"]}]},{"author_position":"middle","author":{"id":null,"display_name":"A. Moyano Mart\u00ednez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099858","display_name":"Marqu\u00e9s de Valdecilla University Hospital","ror":"https://ror.org/01w4yqf75","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210099858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"A. Moyano Mart\u00ednez","raw_affiliation_strings":["Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain","institution_ids":["https://openalex.org/I4210099858"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077623133","display_name":"S. D\u00edez Espiga","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099858","display_name":"Marqu\u00e9s de Valdecilla University Hospital","ror":"https://ror.org/01w4yqf75","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210099858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"S. Diez Espiga","raw_affiliation_strings":["Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain","institution_ids":["https://openalex.org/I4210099858"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5004480347","display_name":"M. Iturralde Ros","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099858","display_name":"Marqu\u00e9s de Valdecilla University Hospital","ror":"https://ror.org/01w4yqf75","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210099858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"M. Iturralde Ros","raw_affiliation_strings":["Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Universitario Marqu\u00e9s de Valdecilla, Santander, Spain","institution_ids":["https://openalex.org/I4210099858"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210099858"],"apc_list":{"value":3550,"currency":"USD","value_usd":3550},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"493","issue":null,"first_page":"S205","last_page":"S206"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.5541999936103821,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.5541999936103821,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular 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/T10071","display_name":"Bone health and osteoporosis research","score":0.3953000009059906,"subfield":{"id":"https://openalex.org/subfields/2732","display_name":"Orthopedics and Sports 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/T13430","display_name":"Lipid metabolism and disorders","score":0.017999999225139618,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/ldl-receptor","display_name":"LDL receptor","score":0.878000020980835},{"id":"https://openalex.org/keywords/ldlr-mutations","display_name":"LDLR mutations","score":0.9599999785423279},{"id":"https://openalex.org/keywords/heterozygous-familial-hypercholesterolemia","display_name":"heterozygous familial hypercholesterolemia","score":0.9919999837875366}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5068092942237854},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.4486182928085327},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.3881468176841736},{"id":"https://openalex.org/C142362112","wikidata":"https://www.wikidata.org/wiki/Q735","display_name":"Art","level":0,"score":0.11126571893692017}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.cca.2019.03.427","doi":"https://doi.org/10.1016/j.cca.2019.03.427","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.cca.2019.03.427","pdf_url":null,"source":{"id":"https://openalex.org/S207549998","display_name":"Clinica Chimica Acta","issn_l":"0009-8981","issn":["0009-8981","1873-3492"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinica Chimica Acta","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2792723757","https://openalex.org/W2783515729","https://openalex.org/W6979936080","https://openalex.org/W1864817521","https://openalex.org/W2325935063","https://openalex.org/W3186834273","https://openalex.org/W4403923405","https://openalex.org/W2806595025","https://openalex.org/W2076629569","https://openalex.org/W1548081233"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2019-05-29T00:00:00"}
