Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart disease.

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Title: Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart disease.
Authors: Dzhumaniiazova IK; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Meshkov AN; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia.; Federal State Budgetary Institution National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthсare of the Russian Federation, Moscow, Russia., Daniel VV; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Ezhov MV; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Zelenova EA; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Chubykina UV; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Kashtanova DA; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Ivanov MV; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Matkava LR; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Blinova OI; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Kumar NA; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Fedorov AY; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Ibragimova HU; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Lavrikova TA; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Aksenova YO; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Gurciev TM; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Gomyranova NV; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Vorobeva YS; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Hasanova ZB; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Yudin VS; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Makarov VV; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Keskinov AA; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Kraevoy SA; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Boytsov SA; Federal State Budgetary Institution National Medical Research Centre of Cardiology Named After Academician E.I. Chazov of the Ministry of Health of the Russian Federation, Moscow, Russia., Yudin SM; Federal State Budgetary Institution «Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency, Moscow, Russia., Skvortsova VI; Federal Medical and Biologicl Agency, Moscow, Russia.
Source: Frontiers in genetics [Front Genet] 2025 Aug 25; Vol. 16, pp. 1589014. Date of Electronic Publication: 2025 Aug 25 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: In Process
Database: MEDLINE Ultimate
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ISSN:1664-8021
DOI:10.3389/fgene.2025.1589014