{"doi":"10.1089/10906570260471895","title":"A Very Rare Association of Three Mutations of the\n                    <i>HFE</i>\n                    Gene for Hemochromatosis","abstract":null,"journal":"Genetic Testing","year":2002,"id":685808,"datarank":0.3958585994422889,"base_score":2.639057329615259,"endowment":2.639057329615259,"self_citation_contribution":0.3958585994422889,"citation_network_contribution":0.0,"self_endowment_contribution":0.3958585994422889,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":13,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1791757,"name":"Laura Perotti","orcid":null,"position":1,"is_corresponding":false},{"id":1791759,"name":"Maristella Prucca","orcid":null,"position":2,"is_corresponding":false},{"id":1791762,"name":"Sabina Martini","orcid":null,"position":3,"is_corresponding":false},{"id":1791765,"name":"Giancarlo Prandi","orcid":null,"position":4,"is_corresponding":false},{"id":1791768,"name":"Gianmichele Peano","orcid":null,"position":5,"is_corresponding":false},{"id":1791754,"name":"Giuseppe Menardi","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"A Very Rare Association of Three Mutations of the\n                    <i>HFE</i>\n                    Gene for Hemochromatosis","abstract":"In the present paper, we describe a patient who is a compound heterozygote for three mutations in the HFE gene: C282Y, H63D, and E168Q. The patient's mother carries two copies of H63D and one copy of E168Q; the patient's father is heterozygous for C282Y. The family study indicates that the patient, as well as his sister, a maternal uncle, and a first cousin, all have inherited a single HFE allele that contains two mutations H63D and E168Q. The clinical symptoms and laboratory findings of the patient and his relatives are consistent with the conclusion that the E168Q mutation by itself is unlikely to result in hemochromatosis.","is_dataset_classified":null,"base_score":2.639057329615259,"endowment":2.639057329615259,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"12537660","pmcid":null,"openalex_id":"https://openalex.org/W2176384465","authors":[],"funders":[],"total_grants":0,"fwci":0.4779,"citation_percentile":0.61770665,"influential_citations":0,"citation_trend":[{"year":2015,"count":1},{"year":2016,"count":1},{"year":2017,"count":1},{"year":2022,"count":1}],"oa_status":"closed","license":"http://www.liebertpub.com/nv/resources-tools/text-and-data-mining-policy/121/","oa_locations":[{"url":"http://www.liebertpub.com/doi/pdf/10.1089/10906570260471895","host_type":"publisher"},{"url":"https://doi.org/10.1089/10906570260471895","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/12537660","host_type":"repository"}],"fields_of_study":["Iron Metabolism and Disorders","Hemoglobinopathies and Related Disorders","Trace Elements in Health"],"mesh_terms":["Hemochromatosis Protein","Adult","Aged","Female","Hemochromatosis","Humans","Genetic Linkage","Male","Membrane Proteins","Middle Aged","Pedigree","Histocompatibility Antigens Class I","Mutation, Missense"],"keywords":["Hemochromatosis","Hereditary hemochromatosis","Compound heterozygosity","Cousin","Genetics","Heterozygote advantage","Allele","Mutation","Medicine","Gene","Biology"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-18T17:43:10.506601Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}