{"id":"https://openalex.org/W2015481329","doi":"https://doi.org/10.1161/01.atv.11.2.234","title":"Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia.","display_name":"Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia.","publication_year":1991,"publication_date":"1991-03-01","ids":{"openalex":"https://openalex.org/W2015481329","doi":"https://doi.org/10.1161/01.atv.11.2.234","mag":"2015481329","pmid":"https://pubmed.ncbi.nlm.nih.gov/1998642"},"language":"en","primary_location":{"id":"doi:10.1161/01.atv.11.2.234","doi":"https://doi.org/10.1161/01.atv.11.2.234","is_oa":true,"landing_page_url":"https://doi.org/10.1161/01.atv.11.2.234","pdf_url":"https://www.ahajournals.org/doi/pdf/10.1161/01.ATV.11.2.234","source":{"id":"https://openalex.org/S4210240347","display_name":"Arteriosclerosis and Thrombosis A Journal of Vascular Biology","issn_l":"1049-8834","issn":["1049-8834","2330-9199"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arteriosclerosis and Thrombosis: A Journal of Vascular Biology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.ahajournals.org/doi/pdf/10.1161/01.ATV.11.2.234","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5036037643","display_name":"Nicoletta Lelli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122346577","display_name":"University of Modena and Reggio Emilia","ror":"https://ror.org/02d4c4y02","country_code":"IT","type":"education","lineage":["https://openalex.org/I122346577"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"N Lelli","raw_affiliation_strings":["Istituto di Patologia Generale Universit\u00e0 di Modena, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Patologia Generale Universit\u00e0 di Modena, Italia","institution_ids":["https://openalex.org/I122346577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075079118","display_name":"M. Ghisellini","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122346577","display_name":"University of Modena and Reggio Emilia","ror":"https://ror.org/02d4c4y02","country_code":"IT","type":"education","lineage":["https://openalex.org/I122346577"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"M Ghisellini","raw_affiliation_strings":["Istituto di Patologia Generale Universit\u00e0 di Modena, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Patologia Generale Universit\u00e0 di Modena, Italia","institution_ids":["https://openalex.org/I122346577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079311591","display_name":"Rossana Gualdi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122346577","display_name":"University of Modena and Reggio Emilia","ror":"https://ror.org/02d4c4y02","country_code":"IT","type":"education","lineage":["https://openalex.org/I122346577"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"R Gualdi","raw_affiliation_strings":["Istituto di Patologia Generale Universit\u00e0 di Modena, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Patologia Generale Universit\u00e0 di Modena, Italia","institution_ids":["https://openalex.org/I122346577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007972087","display_name":"Roberta Tiozzo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122346577","display_name":"University of Modena and Reggio Emilia","ror":"https://ror.org/02d4c4y02","country_code":"IT","type":"education","lineage":["https://openalex.org/I122346577"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"R Tiozzo","raw_affiliation_strings":["Istituto di Patologia Generale Universit\u00e0 di Modena, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Patologia Generale Universit\u00e0 di Modena, Italia","institution_ids":["https://openalex.org/I122346577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009626049","display_name":"Sebastiano Calandra","orcid":"https://orcid.org/0000-0001-6386-9174","observed_orcids":["https://orcid.org/0000-0001-6386-9174"]},"institutions":[{"id":"https://openalex.org/I122346577","display_name":"University of Modena and Reggio Emilia","ror":"https://ror.org/02d4c4y02","country_code":"IT","type":"education","lineage":["https://openalex.org/I122346577"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S Calandra","raw_affiliation_strings":["Istituto di Patologia Generale Universit\u00e0 di Modena, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Patologia Generale Universit\u00e0 di Modena, Italia","institution_ids":["https://openalex.org/I122346577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026307792","display_name":"Antonio Vittorino Gaddi","orcid":"https://orcid.org/0000-0003-0147-1894","observed_orcids":["https://orcid.org/0000-0003-0147-1894"]},"institutions":[{"id":"https://openalex.org/I122346577","display_name":"University of Modena and Reggio Emilia","ror":"https://ror.org/02d4c4y02","country_code":"IT","type":"education","lineage":["https://openalex.org/I122346577"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A Gaddi","raw_affiliation_strings":["Istituto di Patologia Generale Universit\u00e0 di Modena, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Patologia Generale Universit\u00e0 di Modena, Italia","institution_ids":["https://openalex.org/I122346577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050581751","display_name":"Alessandro Ciarrocchi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122346577","display_name":"University of Modena and Reggio Emilia","ror":"https://ror.org/02d4c4y02","country_code":"IT","type":"education","lineage":["https://openalex.org/I122346577"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A Ciarrocchi","raw_affiliation_strings":["Istituto di Patologia Generale Universit\u00e0 di Modena, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Patologia Generale Universit\u00e0 di Modena, Italia","institution_ids":["https://openalex.org/I122346577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077173779","display_name":"Marcello Arca","orcid":"https://orcid.org/0000-0003-3786-0883","observed_orcids":["https://orcid.org/0000-0003-3786-0883"]},"institutions":[{"id":"https://openalex.org/I122346577","display_name":"University of Modena and Reggio Emilia","ror":"https://ror.org/02d4c4y02","country_code":"IT","type":"education","lineage":["https://openalex.org/I122346577"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"M Arca","raw_affiliation_strings":["Istituto di Patologia Generale Universit\u00e0 di Modena, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Patologia Generale Universit\u00e0 di Modena, Italia","institution_ids":["https://openalex.org/I122346577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103133159","display_name":"Sergio Fazio","orcid":"https://orcid.org/0000-0002-8145-8034","observed_orcids":["https://orcid.org/0000-0002-8145-8034"]},"institutions":[{"id":"https://openalex.org/I122346577","display_name":"University of Modena and Reggio Emilia","ror":"https://ror.org/02d4c4y02","country_code":"IT","type":"education","lineage":["https://openalex.org/I122346577"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S Fazio","raw_affiliation_strings":["Istituto di Patologia Generale Universit\u00e0 di Modena, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Patologia Generale Universit\u00e0 di Modena, Italia","institution_ids":["https://openalex.org/I122346577"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5009804587","display_name":"Domenico Antonio Coviello","orcid":"https://orcid.org/0000-0001-8440-865X","observed_orcids":["https://orcid.org/0000-0001-8440-865X"]},"institutions":[{"id":"https://openalex.org/I122346577","display_name":"University of Modena and Reggio Emilia","ror":"https://ror.org/02d4c4y02","country_code":"IT","type":"education","lineage":["https://openalex.org/I122346577"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"D A Coviello","raw_affiliation_strings":["Istituto di Patologia Generale Universit\u00e0 di Modena, Italia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Patologia Generale Universit\u00e0 di Modena, Italia","institution_ids":["https://openalex.org/I122346577"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I122346577"],"apc_list":null,"apc_paid":null,"fwci":2.475,"has_fulltext":true,"cited_by_count":28,"citation_normalized_percentile":{"value":0.89041364,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"11","issue":"2","first_page":"234","last_page":"243"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.9526000022888184,"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":0.9526000022888184,"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/T13430","display_name":"Lipid metabolism and disorders","score":0.023099999874830246,"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/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.012900000438094139,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-hypercholesterolemia","display_name":"familial hypercholesterolemia","score":0.9179999828338623},{"id":"https://openalex.org/keywords/ldl-receptor","display_name":"LDL receptor","score":0.9319999814033508},{"id":"https://openalex.org/keywords/exon-deletion","display_name":"exon deletion","score":0.6190000176429749},{"id":"https://openalex.org/keywords/exon-insertion","display_name":"exon insertion","score":0.9010000228881836},{"id":"https://openalex.org/keywords/promoter-deletion","display_name":"promoter deletion","score":0.9559999704360962},{"id":"https://openalex.org/keywords/ligand-binding-domain","display_name":"ligand-binding domain","score":0.9350000023841858},{"id":"https://openalex.org/keywords/dermal-fibroblasts","display_name":"dermal fibroblasts","score":0.8790000081062317},{"id":"https://openalex.org/keywords/italian-patients","display_name":"Italian patients","score":0.796999990940094}],"concepts":[{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.8473685383796692},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.8439995050430298},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.6504178047180176},{"id":"https://openalex.org/C2779120738","wikidata":"https://www.wikidata.org/wiki/Q2711291","display_name":"Familial hypercholesterolemia","level":3,"score":0.6500232815742493},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.5731931924819946},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5460864901542664},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5110993981361389},{"id":"https://openalex.org/C133307689","wikidata":"https://www.wikidata.org/wiki/Q48749","display_name":"Southern blot","level":3,"score":0.5010547637939453},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4965222477912903},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.49145400524139404},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.41294047236442566},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.17839661240577698},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.12833842635154724}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006938","descriptor_name":"Hyperlipoproteinemia Type II","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007558","descriptor_name":"Italy","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009693","descriptor_name":"Nucleic Acid Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011973","descriptor_name":"Receptors, LDL","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015183","descriptor_name":"Restriction Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1161/01.atv.11.2.234","doi":"https://doi.org/10.1161/01.atv.11.2.234","is_oa":true,"landing_page_url":"https://doi.org/10.1161/01.atv.11.2.234","pdf_url":"https://www.ahajournals.org/doi/pdf/10.1161/01.ATV.11.2.234","source":{"id":"https://openalex.org/S4210240347","display_name":"Arteriosclerosis and Thrombosis A Journal of Vascular Biology","issn_l":"1049-8834","issn":["1049-8834","2330-9199"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arteriosclerosis and Thrombosis: A Journal of Vascular Biology","raw_type":"journal-article"},{"id":"pmid:1998642","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1998642","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":"Arteriosclerosis and thrombosis : a journal of vascular biology","raw_type":"Case Reports"},{"id":"pmh:oai:iris.uniroma1.it:11573/481655","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11573/481655","pdf_url":null,"source":{"id":"https://openalex.org/S4377196107","display_name":"IRIS Research product catalog (Sapienza University of Rome)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"mag:3148358391","doi":null,"is_oa":false,"landing_page_url":"https://www.ahajournals.org/doi/abs/10.1161/atv91.11.2.1998642?related-urls=yesl11%2F2%2F234c11%2F2%2F234c11%2F2%2F234","pdf_url":null,"source":{"id":"https://openalex.org/S4210240347","display_name":"Arteriosclerosis and Thrombosis A Journal of Vascular Biology","issn_l":"1049-8834","issn":["1049-8834","2330-9199"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Arteriosclerosis and Thrombosis: A Journal of Vascular Biology","raw_type":null}],"best_oa_location":{"id":"doi:10.1161/01.atv.11.2.234","doi":"https://doi.org/10.1161/01.atv.11.2.234","is_oa":true,"landing_page_url":"https://doi.org/10.1161/01.atv.11.2.234","pdf_url":"https://www.ahajournals.org/doi/pdf/10.1161/01.ATV.11.2.234","source":{"id":"https://openalex.org/S4210240347","display_name":"Arteriosclerosis and Thrombosis A Journal of Vascular Biology","issn_l":"1049-8834","issn":["1049-8834","2330-9199"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arteriosclerosis and Thrombosis: A Journal of Vascular Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2015481329.pdf","grobid_xml":"https://content.openalex.org/works/W2015481329.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W274079493","https://openalex.org/W1494345508","https://openalex.org/W1504237050","https://openalex.org/W1522459970","https://openalex.org/W1545756552","https://openalex.org/W1559146544","https://openalex.org/W1569405015","https://openalex.org/W1595294831","https://openalex.org/W1946263363","https://openalex.org/W1971675092","https://openalex.org/W1995032745","https://openalex.org/W1996241166","https://openalex.org/W1997101537","https://openalex.org/W2000301898","https://openalex.org/W2008080775","https://openalex.org/W2018823699","https://openalex.org/W2032969302","https://openalex.org/W2036677988","https://openalex.org/W2048136153","https://openalex.org/W2054616988","https://openalex.org/W2057498913","https://openalex.org/W2061264128","https://openalex.org/W2065309844","https://openalex.org/W2080346424","https://openalex.org/W2084744450","https://openalex.org/W2090763964","https://openalex.org/W2116404316","https://openalex.org/W2116448902","https://openalex.org/W2117139320","https://openalex.org/W2118313918","https://openalex.org/W2128840474","https://openalex.org/W2134812217","https://openalex.org/W2135860409","https://openalex.org/W2144634347","https://openalex.org/W2152556342","https://openalex.org/W2153231004","https://openalex.org/W2261744417","https://openalex.org/W2317786124"],"related_works":["https://openalex.org/W2012594589","https://openalex.org/W2061264128","https://openalex.org/W1579807737","https://openalex.org/W2344994645","https://openalex.org/W2134119707","https://openalex.org/W2011799115","https://openalex.org/W1979106244","https://openalex.org/W1000990165","https://openalex.org/W2058513626","https://openalex.org/W2261744417"],"abstract_inverted_index":{"Three":[0],"gross":[1],"rearrangements":[2],"of":[3,16,86,91,101,120,150,158,171,179,184,213],"the":[4,92,118,121,142,147,151,155,163,168,172,176,182,197,211,214,218],"low":[5],"density":[6],"lipoprotein":[7],"receptor":[8],"(LDL-R)":[9],"gene":[10],"were":[11,28,221],"recognized":[12],"during":[13],"a":[14,43,79,84,159],"survey":[15],"23":[17],"unrelated":[18],"Italian":[19,65,215],"subjects":[20],"with":[21,35,117],"familial":[22],"hypercholesterolemia":[23],"(FH).":[24],"Restriction":[25],"endonuclease":[26],"data":[27],"obtained":[29],"by":[30,60,83],"Southern":[31],"blotting":[32],"and":[33,50,67,70,89,128,146,203,207],"hybridization":[34],"exon-specific":[36],"probes.":[37],"Proband":[38,74,130],"FH-29":[39],"is":[40,54,76,154],"heterozygous":[41,72],"for":[42,78],"4-kb":[44],"deletion,":[45,139],"which":[46,140],"eliminates":[47,141,162],"exons":[48,87,126,145],"13":[49],"14.":[51],"This":[52,153],"mutation":[53],"similar":[55],"to":[56,105,125,134],"that":[57,161,190],"previously":[58],"reported":[59],"other":[61],"investigators":[62],"in":[63,115,192,201],"one":[64],"homozygous":[66,77],"two":[68,219],"British":[69],"Canadian":[71],"patients.":[73],"FH-30":[75,102,202],"5.5-kb":[80],"insertion":[81,119],"caused":[82],"duplication":[85],"16":[88,127],"17":[90],"LDL-R":[93,95,173,185],"gene.":[94,152,174],"mRNA":[96,110,186],"isolated":[97],"from":[98],"skin":[99,177],"fibroblasts":[100,178],"was":[103,132,187],"found":[104,133,191,200],"be":[106],"larger":[107],"than":[108,137],"normal":[109],"(5.6":[111],"versus":[112],"5.3":[113],"kb),":[114],"concordance":[116],"236":[122],"nucleotides":[123],"corresponding":[124],"17.":[129],"FH-44":[131,204],"have":[135],"greater":[136],"25-kb":[138],"first":[143,156],"six":[144],"promoter":[148,164],"region":[149],"example":[157],"deletion":[160],"as":[165,167,205],"well":[166],"ligand-binding":[169],"domain":[170],"In":[175],"this":[180],"patient,":[181],"level":[183],"approximately":[188],"half":[189],"control":[193],"fibroblasts.":[194],"We":[195],"designate":[196],"new":[198],"mutations":[199],"FHviterbo":[206],"FHBologna-1,":[208],"respectively,":[209],"after":[210],"names":[212],"cities":[216],"where":[217],"patients":[220],"born.":[222]},"counts_by_year":[{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
