{"doi":"10.1006/geno.1994.1132","title":"Mucopolysaccharidosis IV A: Molecular Cloning of the Human N-Acetylgalactosamine-6-sulfatase Gene (GALNS) and Analysis of the 5′-Flanking Region","abstract":null,"journal":"Genomics","year":1994,"id":18491,"datarank":2.873600570500513,"base_score":4.499809670330265,"endowment":4.499809670330265,"self_citation_contribution":0.6749714505495399,"citation_network_contribution":2.1986291199509735,"self_endowment_contribution":0.6749714505495399,"citer_contribution":2.1986291199509735,"corpus_percentile":null,"corpus_rank":null,"citation_count":89,"citer_count":45,"citers_with_citation_signal":38,"citers_with_endowment":38,"datacite_reuse_total":6,"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":128349,"name":"Shunji Tomatsu","orcid":null,"position":1,"is_corresponding":false},{"id":128350,"name":"Toshinori Hori","orcid":null,"position":2,"is_corresponding":false},{"id":128351,"name":"Seiji Fukuda","orcid":null,"position":3,"is_corresponding":false},{"id":128352,"name":"Kazuko Sukegawa","orcid":null,"position":4,"is_corresponding":false},{"id":128353,"name":"Naomi Kondo","orcid":null,"position":5,"is_corresponding":false},{"id":128354,"name":"Yasuyuki Suzuki","orcid":null,"position":6,"is_corresponding":false},{"id":128355,"name":"Nobuyuki Shimozawa","orcid":null,"position":7,"is_corresponding":false},{"id":128356,"name":"Tadao Orii","orcid":null,"position":8,"is_corresponding":false},{"id":128348,"name":"Yoshihiro Nakashima","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":4.499809670330265,"endowment":4.499809670330265,"datacite_reuse_total":6,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"8020961","pmcid":null,"openalex_id":"https://openalex.org/W1977687076","authors":[],"funders":[],"total_grants":0,"fwci":3.1627,"citation_percentile":0.92225407,"influential_citations":2,"citation_trend":[{"year":2012,"count":5},{"year":2013,"count":4},{"year":2014,"count":7},{"year":2015,"count":1},{"year":2016,"count":1},{"year":2018,"count":5},{"year":2019,"count":1},{"year":2020,"count":2},{"year":2022,"count":7},{"year":2023,"count":2},{"year":2024,"count":5},{"year":2025,"count":1}],"oa_status":"closed","license":"https://www.elsevier.com/tdm/userlicense/1.0/","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0888754384711323?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0888754384711323?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1006/geno.1994.1132","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/8020961","host_type":"repository"}],"fields_of_study":["Lysosomal Storage Disorders Research","Carbohydrate Chemistry and Synthesis","Chromosomal and Genetic Variations","Medicine","Biology","Base Sequence","Chimera","Chondroitinsulfatases","Cloning, Molecular","DNA, Complementary","Exons","Gene Expression","Genes, Reporter","Genomic Library","Humans","Introns","Molecular Sequence Data","Mucopolysaccharidosis IV","Mutation","Promoter Regions, Genetic","RNA Splicing"],"mesh_terms":["Base Sequence","Chimera","Chondroitinsulfatases","Cloning, Molecular","Exons","Humans","Introns","Molecular Sequence Data","Mucopolysaccharidosis IV","Mutation","Promoter Regions, Genetic","RNA Splicing","Genomic Library","Gene Expression","Genes, Reporter","DNA, Complementary"],"keywords":["5' flanking region","Biology","TATA box","Primer extension","Molecular biology","Gene","CAAT box","Start codon","Genetics","Promoter","Exon","Coding region","Regulatory sequence","Gene expression","Messenger RNA"],"sdg_mappings":[],"linked_datasets":[{"doi":"10.6084/m9.figshare.20115406.v1","title":"Additional file 1 of The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.20115406","title":"Additional file 1 of The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.20115415.v1","title":"Additional file 4 of The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.20115415","title":"Additional file 4 of The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.25963156.v1","title":"Additional file 1 of Delayed diagnosis of mild mucopolysaccharidosis type IVA","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.25963156","title":"Additional file 1 of Delayed diagnosis of mild mucopolysaccharidosis type IVA","publisher":"figshare","resource_type":"JournalArticle"}],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-03T22:17:10.995946Z","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":[]}