{"id":"https://openalex.org/W2005274668","doi":"https://doi.org/10.1002/humu.1380070202","title":"A novelnull mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa","display_name":"A novelnull mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa","publication_year":1996,"publication_date":"1996-01-01","ids":{"openalex":"https://openalex.org/W2005274668","doi":"https://doi.org/10.1002/humu.1380070202","mag":"2005274668","pmid":"https://pubmed.ncbi.nlm.nih.gov/8829640"},"language":"en","primary_location":{"id":"doi:10.1002/humu.1380070202","doi":"https://doi.org/10.1002/humu.1380070202","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.1380070202","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.1380070202","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","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://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.1380070202","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5023401451","display_name":"Beatriz S\u00e1nchez","orcid":"https://orcid.org/0000-0001-7603-8740","observed_orcids":["https://orcid.org/0000-0001-7603-8740"]},"institutions":[{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Beatriz S\u00e1nchez","raw_affiliation_strings":["Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario Virgen del Roc\u00edo, Sevilla, Spain","Fax: 34-5-424-8111","Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario Virgen del Roc\u00edo, Sevilla, Spain","institution_ids":["https://openalex.org/I4210153139"]},{"raw_affiliation_string":"Fax: 34-5-424-8111","institution_ids":[]},{"raw_affiliation_string":"Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain","institution_ids":["https://openalex.org/I4210153139"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050254001","display_name":"Salud Borrego","orcid":"https://orcid.org/0000-0002-2513-6161","observed_orcids":["https://orcid.org/0000-0002-2513-6161"]},"institutions":[{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Salud Borrego","raw_affiliation_strings":["Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario, Sevilla, Spain","Fax: 34-5-424-8111","Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario, Sevilla, Spain","institution_ids":[]},{"raw_affiliation_string":"Fax: 34-5-424-8111","institution_ids":[]},{"raw_affiliation_string":"Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain","institution_ids":["https://openalex.org/I4210153139"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065431030","display_name":"P. Chaparro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Pedro Chaparro","raw_affiliation_strings":["Servicio de Neurofisiologi\u0301a, Hospital Universitario \u201cVirgen del Roci\u0301o,\u201d 41013 Sevilla, Spain;","Fax: 34-5-424-8111","Servicio de Neurofisiolog\u00eda, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Neurofisiologi\u0301a, Hospital Universitario \u201cVirgen del Roci\u0301o,\u201d 41013 Sevilla, Spain;","institution_ids":["https://openalex.org/I4210153139"]},{"raw_affiliation_string":"Fax: 34-5-424-8111","institution_ids":[]},{"raw_affiliation_string":"Servicio de Neurofisiolog\u00eda, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain","institution_ids":["https://openalex.org/I4210153139"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015210381","display_name":"T. Rueda Rueda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Trinidad Rueda","raw_affiliation_strings":["Servicio de Oftalmologi\u0301a, Hospital Universitario \u201cVirgen del Roci\u0301o,\u201d 41013 Sevilla, Spain;","Fax: 34-5-424-8111","Servicio de Oftalmolog\u00eda, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Oftalmologi\u0301a, Hospital Universitario \u201cVirgen del Roci\u0301o,\u201d 41013 Sevilla, Spain;","institution_ids":["https://openalex.org/I4210153139"]},{"raw_affiliation_string":"Fax: 34-5-424-8111","institution_ids":[]},{"raw_affiliation_string":"Servicio de Oftalmolog\u00eda, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain","institution_ids":["https://openalex.org/I4210153139"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046203544","display_name":"Francisca L\u00f3pez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Francisca L\u00f3pez","raw_affiliation_strings":["Servicio de Oftalmologi\u0301a, Hospital Universitario \u201cVirgen del Roci\u0301o,\u201d 41013 Sevilla, Spain;","Fax: 34-5-424-8111","Servicio de Oftalmolog\u00eda, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Oftalmologi\u0301a, Hospital Universitario \u201cVirgen del Roci\u0301o,\u201d 41013 Sevilla, Spain;","institution_ids":["https://openalex.org/I4210153139"]},{"raw_affiliation_string":"Fax: 34-5-424-8111","institution_ids":[]},{"raw_affiliation_string":"Servicio de Oftalmolog\u00eda, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain","institution_ids":["https://openalex.org/I4210153139"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085336232","display_name":"Guillermo Anti\u00f1olo","orcid":"https://orcid.org/0000-0002-2113-074X","observed_orcids":["https://orcid.org/0000-0002-2113-074X"]},"institutions":[{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Guillermo Anti\u00f1olo","raw_affiliation_strings":["Unidad de Gene\u0301tica Me\u0301dica, Hospital Universitario \u201cVirgen del Roci\u0301o,\u201d 41013 Sevilla, Spain;","Fax: 34-5-424-8111","Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unidad de Gene\u0301tica Me\u0301dica, Hospital Universitario \u201cVirgen del Roci\u0301o,\u201d 41013 Sevilla, Spain;","institution_ids":["https://openalex.org/I4210153139"]},{"raw_affiliation_string":"Fax: 34-5-424-8111","institution_ids":[]},{"raw_affiliation_string":"Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario \"Virgen del Roc\u00edo,\" 41013 Sevilla, Spain","institution_ids":["https://openalex.org/I4210153139"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5085336232"],"corresponding_institution_ids":["https://openalex.org/I4210153139"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":0.433,"has_fulltext":true,"cited_by_count":17,"citation_normalized_percentile":{"value":0.60518823,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"7","issue":"2","first_page":"180","last_page":"180"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T10691","display_name":"Retinal Development and Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.9480000138282776},{"id":"https://openalex.org/keywords/autosomal-dominant-retinitis-pigmentosa","display_name":"autosomal dominant retinitis pigmentosa","score":0.984000027179718},{"id":"https://openalex.org/keywords/rhodopsin-gene","display_name":"rhodopsin gene","score":0.9480000138282776},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7829999923706055},{"id":"https://openalex.org/keywords/late-onset","display_name":"late onset","score":0.6290000081062317},{"id":"https://openalex.org/keywords/night-blindness","display_name":"night blindness","score":0.8489999771118164},{"id":"https://openalex.org/keywords/inherited-retinal-degeneration","display_name":"inherited retinal degeneration","score":0.9300000071525574},{"id":"https://openalex.org/keywords/co-segregation","display_name":"co-segregation","score":0.527999997138977},{"id":"https://openalex.org/keywords/family-studies","display_name":"family studies","score":0.42800000309944153}],"concepts":[{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.5754493474960327},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.43887490034103394},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.37006109952926636},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.34576988220214844},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32686498761177063},{"id":"https://openalex.org/C142362112","wikidata":"https://www.wikidata.org/wiki/Q735","display_name":"Art","level":0,"score":0.2857285737991333},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.2821059823036194},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.09884798526763916}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012243","descriptor_name":"Rhodopsin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1002/humu.1380070202","doi":"https://doi.org/10.1002/humu.1380070202","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.1380070202","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.1380070202","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:8829640","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8829640","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":"Human mutation","raw_type":"Journal Article"},{"id":"pmid:8829641","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8829641","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":"Human mutation","raw_type":"Journal Article"},{"id":"mag:2043840923","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8829641","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"doi:10.1002/humu.1380070202","doi":"https://doi.org/10.1002/humu.1380070202","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.1380070202","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.1380070202","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","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/W2005274668.pdf","grobid_xml":"https://content.openalex.org/works/W2005274668.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1603150403","https://openalex.org/W1866273988","https://openalex.org/W2005557667","https://openalex.org/W2012582259","https://openalex.org/W2016537683","https://openalex.org/W2032969302","https://openalex.org/W2064319275","https://openalex.org/W2068988534","https://openalex.org/W2075026737","https://openalex.org/W2165945808","https://openalex.org/W2318841795"],"related_works":["https://openalex.org/W7099731690","https://openalex.org/W4244425034","https://openalex.org/W2163608174","https://openalex.org/W2065234767","https://openalex.org/W2318841795","https://openalex.org/W2018803115","https://openalex.org/W4255245058","https://openalex.org/W2392910081","https://openalex.org/W2012582259","https://openalex.org/W2391511410"],"abstract_inverted_index":{"Retinitis":[0],"pigmentosa":[1],"(RP)":[2],"is":[3],"the":[4,22,36,52],"most":[5],"common":[6],"inherited":[7],"retinal":[8],"degeneration.A":[9],"subset":[10],"of":[11],"patients":[12],"with":[13,35,43,54],"autosomal":[14],"dominant":[15],"(ad)":[16],"RP":[17],"carry":[18],"a":[19,27],"mutation":[20],"in":[21,39,46],"rhodopsin":[23,30],"gene.We":[24],"have":[25],"identified":[26],"new":[28],"missense":[29],"mutation.namely":[31],"A346P,":[32],"which":[33],"cosegregates":[34],"disease":[37,53],"phenotype":[38],"one":[40],"Spanish":[41],"family":[42,48],"adRP.Affected":[44],"individuals":[45],"this":[47],"show":[49],"onset":[50],"3f":[51],"night":[55],"blindness":[56]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}