{"id":"https://openalex.org/W2172190191","doi":"https://doi.org/10.1093/hmg/3.8.1421","title":"Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa","display_name":"Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa","publication_year":1994,"publication_date":"1994-01-01","ids":{"openalex":"https://openalex.org/W2172190191","doi":"https://doi.org/10.1093/hmg/3.8.1421","mag":"2172190191","pmid":"https://pubmed.ncbi.nlm.nih.gov/7987326"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/3.8.1421","doi":"https://doi.org/10.1093/hmg/3.8.1421","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/3.8.1421","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111994869","display_name":"Guillermo Antiolo","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":true,"raw_author_name":"Guillermo Antiolo","raw_affiliation_strings":["Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario Virgen del Roc\u00edo, 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"]}]},{"author_position":"middle","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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Beatriz S\u00e1nchez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Salud Borrego","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015210381","display_name":"T. Rueda Rueda","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Trinidad Rueda","raw_affiliation_strings":["Servicio de Oftalmolog\u00eda"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Oftalmolog\u00eda","institution_ids":[]}]},{"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 Neurofisiolog\u00eda, Hospital Universitario \u2018Virgen del Roc\u00edo\u2019, Avda. Manuel Siurot s/n, 41013 Sevilla Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Neurofisiolog\u00eda, Hospital Universitario \u2018Virgen del Roc\u00edo\u2019, Avda. Manuel Siurot s/n, 41013 Sevilla Spain","institution_ids":["https://openalex.org/I4210153139"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5014121215","display_name":"Juan C. Cabeza","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Juan C. Cabeza","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5111994869"],"corresponding_institution_ids":["https://openalex.org/I4210153139"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":0.4077,"has_fulltext":false,"cited_by_count":9,"citation_normalized_percentile":{"value":0.64727055,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":93},"biblio":{"volume":"3","issue":"8","first_page":"1421","last_page":"1421"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9990000128746033,"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":0.9990000128746033,"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/T12236","display_name":"Photoreceptor and optogenetics research","score":9.999999747378752e-05,"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"}},{"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"}}],"keywords":[{"id":"https://openalex.org/keywords/rhodopsin","display_name":"rhodopsin","score":0.8759999871253967},{"id":"https://openalex.org/keywords/autosomal-dominant-retinitis-pigmentosa","display_name":"autosomal dominant retinitis pigmentosa","score":0.9869999885559082},{"id":"https://openalex.org/keywords/rho-gene","display_name":"RHO gene","score":0.6209999918937683},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.5569999814033508},{"id":"https://openalex.org/keywords/retinal-degeneration","display_name":"retinal degeneration","score":0.5820000171661377}],"concepts":[{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.8945140838623047},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8910484313964844},{"id":"https://openalex.org/C202033177","wikidata":"https://www.wikidata.org/wiki/Q423107","display_name":"Rhodopsin","level":3,"score":0.7808306217193604},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7546594142913818},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6728566884994507},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5764257907867432},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.4647853374481201},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.15290439128875732},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/hmg/3.8.1421","doi":"https://doi.org/10.1093/hmg/3.8.1421","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/3.8.1421","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmid:7987326","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7987326","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 molecular genetics","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.906.4047","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.906.4047","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://hmg.oxfordjournals.org/content/3/8/1421.full.pdf","raw_type":"text"},{"id":"pmh:oai:open-archive.highwire.org:hmg:3/8/1421","doi":null,"is_oa":false,"landing_page_url":"http://hmg.oxfordjournals.org/cgi/content/short/3/8/1421","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8048999905586243}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2065234767","https://openalex.org/W1990243611","https://openalex.org/W1967586410","https://openalex.org/W7099731690","https://openalex.org/W2090830915","https://openalex.org/W4255245058","https://openalex.org/W1971452416","https://openalex.org/W2011196651","https://openalex.org/W1972428267","https://openalex.org/W1970286448"],"abstract_inverted_index":{"Guillermo":[0],"Antiolo,":[1],"Beatriz":[2],"S\u00e1nchez,":[3],"Salud":[4],"Borrego,":[5],"Trinidad":[6],"Rueda,":[7],"Pedro":[8],"Chaparro,":[9],"Juan":[10],"C.":[11],"Cabeza;":[12],"Identification":[13],"of":[14,21],"a":[15],"new":[16],"mutation":[17],"at":[18],"codon":[19],"171":[20],"rhodops":[22]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
