{"doi":"10.1002/humu.9234","title":"Mutation analysis of the adenomatous polyposis coli (<i>APC</i>) gene in Danish patients with familial adenomatous polyposis (FAP)","abstract":null,"journal":"Human Mutation","year":2004,"id":598853,"datarank":0.38474240361923057,"base_score":2.5649493574615367,"endowment":2.5649493574615367,"self_citation_contribution":0.38474240361923057,"citation_network_contribution":0.0,"self_endowment_contribution":0.38474240361923057,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":12,"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":1534751,"name":"RASMUS S. Ripa","orcid":null,"position":1,"is_corresponding":false},{"id":1534753,"name":"Steffen Bülow","orcid":null,"position":2,"is_corresponding":false},{"id":1534749,"name":"Marie Luise Bisgaard","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Mutation analysis of the adenomatous polyposis coli (<i>APC</i>) gene in Danish patients with familial adenomatous polyposis (FAP)","abstract":"Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and almost 1,000 different pathogenic mutations have been identified in the APC gene up till now. We report 12 novel and 24' previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3' region of the gene showed great variance in phenotypic presentation.","is_dataset_classified":null,"base_score":2.5649493574615367,"endowment":2.5649493574615367,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"15108286","pmcid":null,"openalex_id":"https://openalex.org/W2004573981","authors":[],"funders":[],"total_grants":0,"fwci":0.7885,"citation_percentile":0.71280295,"influential_citations":0,"citation_trend":[{"year":2017,"count":1},{"year":2019,"count":1},{"year":2023,"count":2}],"oa_status":"bronze","license":"http://doi.wiley.com/10.1002/tdm_license_1.1","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.9234","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.9234","host_type":"publisher"},{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.9234","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.9234","host_type":"publisher"},{"url":"https://doi.org/10.1002/humu.9234","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/15108286","host_type":"repository"}],"fields_of_study":["Genetic factors in colorectal cancer","Helicobacter pylori-related gastroenterology studies","Colorectal Cancer Screening and Detection"],"mesh_terms":["Adolescent","Adult","Aged","Child","Denmark","DNA Mutational Analysis","Female","Humans","Male","Middle Aged","Phenotype","Adenomatous Polyposis Coli","Genes, APC","Germ-Line Mutation","3' Flanking Region"],"keywords":["Familial adenomatous polyposis","Adenomatous polyposis coli","Biology","Danish","Germline mutation","Genetics","Gene mutation","Gene","Mutation","Colorectal cancer","Cancer research","Cancer"],"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":"2026-07-28T16:19:36.183773Z","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":[]}